# RGD-PIPELINE: ftp-file-extracts # MODULE: annotations-version-1.1.9 (Oct 10, 2019) # GENERATED-ON: 2025/01/11 # PURPOSE: annotations about active Bonobo objects extracted from RGD database # ONTOLOGY: RDO: RGD Disease Ontology # CONTACT: rgd.data@mcw.edu # FORMAT: tab delimited text # NOTES: multiple values in a single column are separated by '|' # #COLUMN INFORMATION: # #1 RGD_ID unique RGD_ID of the annotated object #2 OBJECT_SYMBOL official symbol of the annotated object #3 OBJECT_NAME official name of the annotated object #4 OBJECT_TYPE annotated object data type: one of ['gene','qtl','strain'] #5 TERM_ACC_ID ontology term accession id #6 TERM_NAME ontology term name #7 QUALIFIER optional qualifier #8 EVIDENCE evidence #9 WITH with info #10 ASPECT aspect #11 REFERENCES db references (Reference RGDID|PUBMED ID) #12 CREATED_DATE created date #13 ASSIGNED_BY assigned by #14 MESH_OMIM_ID MESH:xxx or OMIM:xxx id corresponding to RDO:xxx id found in TERM_ACC_ID column (RGD/CTD Disease Ontology annotations only) #15 CURATION_NOTES curation notes provided by RGD curators #16 ORIGINAL_REFERENCE original reference RGD_ID OBJECT_SYMBOL OBJECT_NAME OBJECT_TYPE TERM_ACC_ID TERM_NAME QUALIFIER EVIDENCE WITH ASPECT REFERENCES CREATED_DATE ASSIGNED_BY MESH_OMIM_ID CURATION_NOTES ORIGINAL_REFERENCE 11667972 CYLC2 cylicin 2 gene DOID:1059 intellectual disability ISO RGD:1344761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11667981 POM121 POM121 transmembrane nucleoporin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11667981 POM121 POM121 transmembrane nucleoporin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11667981 POM121 POM121 transmembrane nucleoporin gene DOID:9005747 Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability ISO RGD:1605101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability PMID:23332918 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:0050700 cardiomyopathy ameliorates ISO RGD:735347 D RGD:9068941 20231118 RGD PMID:30629164|REF_RGD_ID:401900736 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:0050700 cardiomyopathy severity ISO RGD:735346 D RGD:9068941 20231118 RGD associated with obesity; PMID:30629164|REF_RGD_ID:401900736 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:735346 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:13139 crescentic glomerulonephritis ISO RGD:2945 D RGD:9068941 20210108 RGD PMID:18443593|REF_RGD_ID:2293336 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:1824 status epilepticus ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7984056 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:2921 glomerulonephritis ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18443593 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma ISO RGD:2945 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9405228|REF_RGD_ID:2293758 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:5082 liver cirrhosis ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133482 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:735346 D RGD:9068941 20220728 RGD associated with HBV;protein:increased expression:liver (human) PMID:15927205|REF_RGD_ID:153297768 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17898221 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30515189 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:735346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 11667996 JUND JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9970 obesity ISO RGD:735347 D RGD:9068941 20231118 RGD mRNA,protein:increased expression:heart PMID:30629164|REF_RGD_ID:401900736 11668001 DAOA D-amino acid oxidase activator gene DOID:3312 bipolar disorder susceptibility ISO RGD:1349838 D RGD:9068941 20200806 RGD DNA:SNP,haplotype: : PMID:14966479|REF_RGD_ID:1358627 11668001 DAOA D-amino acid oxidase activator gene DOID:5419 schizophrenia ISO RGD:1349838 D RGD:7240710 20180130 OMIM 11668001 DAOA D-amino acid oxidase activator gene DOID:5419 schizophrenia susceptibility ISO RGD:1349838 D RGD:9068941 20200806 RGD DNA:SNPs,haplotype: : PMID:14966479|REF_RGD_ID:1358627 11668001 DAOA D-amino acid oxidase activator gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1349838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11668008 XXYLT1 xyloside xylosyltransferase 1 gene DOID:0060224 atrial fibrillation ISO RGD:1345440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 11668008 XXYLT1 xyloside xylosyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1345440 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11668016 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11668016 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:1540 parathyroid carcinoma ISO RGD:1346161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11668016 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:630 genetic disease ISO RGD:1346161 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11668016 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:9003871 Venous Thrombosis ISO RGD:1346161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16767100 11668016 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:9007061 Glycosylphosphatidylinositol Biosynthesis Defect 1 ISO RGD:1346161 D RGD:7240710 20230531 OMIM 11668016 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:9007061 Glycosylphosphatidylinositol Biosynthesis Defect 1 ISO RGD:1346161 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 PMID:16767100|PMID:17442906|PMID:25293775|PMID:25741868|PMID:28492532|PMID:31445883 11668016 PIGM phosphatidylinositol glycan anchor biosynthesis class M gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11668021 ORC2 origin recognition complex subunit 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1323514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11668021 ORC2 origin recognition complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11668055 CEACAM5 CEA cell adhesion molecule 5 gene DOID:0061010 craniosynostosis 1 ISO RGD:1351932 D RGD:8554872 20241203 ClinVar ClinVar Annotator: match by term: TWIST1-related craniosynostosis PMID:28492532 11668055 CEACAM5 CEA cell adhesion molecule 5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11668055 CEACAM5 CEA cell adhesion molecule 5 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1351932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11668055 CEACAM5 CEA cell adhesion molecule 5 gene DOID:5419 schizophrenia ISO RGD:1351932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11668055 CEACAM5 CEA cell adhesion molecule 5 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1351932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11668055 CEACAM5 CEA cell adhesion molecule 5 gene DOID:9003281 Spontaneous Abortions ISO RGD:1351932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11668055 CEACAM5 CEA cell adhesion molecule 5 gene DOID:9269 maple syrup urine disease ISO RGD:1351932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 11668080 LOC100974636 zinc finger protein 107 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11668088 CENPL centromere protein L gene DOID:1540 parathyroid carcinoma ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11668088 CENPL centromere protein L gene DOID:3755 antithrombin III deficiency ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 11668088 CENPL centromere protein L gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 11668088 CENPL centromere protein L gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 11668088 CENPL centromere protein L gene DOID:9007747 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 11668088 CENPL centromere protein L gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11668101 ITFG1 integrin alpha FG-GAP repeat containing 1 gene DOID:0111041 glycogen storage disease IXB ISO RGD:735534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 11668123 C4H5orf24 chromosome 4 C5orf24 homolog gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11668123 C4H5orf24 chromosome 4 C5orf24 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11668123 C4H5orf24 chromosome 4 C5orf24 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11668136 MRPS12 mitochondrial ribosomal protein S12 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1314714 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11668136 MRPS12 mitochondrial ribosomal protein S12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1314714 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11668146 DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:0081353 congenital myopathy 21 ISO RGD:1314092 D RGD:7240710 20230505 OMIM 11668146 DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:0081353 congenital myopathy 21 ISO RGD:1314092 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myopathy 21 with early respiratory failure PMID:36264506|PMID:36344539 11668146 DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:11720 distal myopathy ISO RGD:1314093 D RGD:9068941 20230330 MouseDO 11668157 HEPACAM2 HEPACAM family member 2 gene DOID:10283 prostate cancer ISO RGD:1602173 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11668157 HEPACAM2 HEPACAM family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11668175 SKP1 S-phase kinase associated protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347276 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11668175 SKP1 S-phase kinase associated protein 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1347276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 1 11668175 SKP1 S-phase kinase associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11668175 SKP1 S-phase kinase associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347276 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11668185 TNFAIP8 TNF alpha induced protein 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11668185 TNFAIP8 TNF alpha induced protein 8 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21969086 11668185 TNFAIP8 TNF alpha induced protein 8 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1314220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11668185 TNFAIP8 TNF alpha induced protein 8 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1314220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21969086 11668185 TNFAIP8 TNF alpha induced protein 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11668185 TNFAIP8 TNF alpha induced protein 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11668185 TNFAIP8 TNF alpha induced protein 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11668199 SEMA4C semaphorin 4C gene DOID:0080600 COVID-19 ISO RGD:1354487 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11668199 SEMA4C semaphorin 4C gene DOID:1059 intellectual disability ISO RGD:1354487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11668199 SEMA4C semaphorin 4C gene DOID:5419 schizophrenia ISO RGD:1354487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11668232 DIPK1A divergent protein kinase domain 1A gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:1603475 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 PMID:16199547|PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:23718193|PMID:23744582|PMID:25741868|PMID:25946618|PMID:27258031|PMID:28492532|PMID:28694211|PMID:28991257|PMID:29797310|PMID:30183354|PMID:30503522 11668232 DIPK1A divergent protein kinase domain 1A gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:1603475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:23718193|PMID:25741868|PMID:28492532 11668232 DIPK1A divergent protein kinase domain 1A gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:1603475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:28492532 11668232 DIPK1A divergent protein kinase domain 1A gene DOID:12449 aplastic anemia ISO RGD:1603475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:25741868 11668232 DIPK1A divergent protein kinase domain 1A gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603475 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary PMID:16199547|PMID:17576681|PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:22689679|PMID:23718193|PMID:23744582|PMID:25741868|PMID:25946618|PMID:27258031|PMID:27432187|PMID:28492532|PMID:28694211|PMID:28991257|PMID:29797310|PMID:30183354|PMID:30503522|PMID:9536098 11668232 DIPK1A divergent protein kinase domain 1A gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603475 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:20054847|PMID:25741868|PMID:28492532 11668232 DIPK1A divergent protein kinase domain 1A gene DOID:630 genetic disease ISO RGD:1603475 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32165824 11668240 LSR lipolysis stimulated lipoprotein receptor gene DOID:0110222 Brugada syndrome 5 ISO RGD:736744 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11668240 LSR lipolysis stimulated lipoprotein receptor gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:736744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11668240 LSR lipolysis stimulated lipoprotein receptor gene DOID:305 carcinoma ISO RGD:736744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11668240 LSR lipolysis stimulated lipoprotein receptor gene DOID:543 dystonia ISO RGD:736744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 11668240 LSR lipolysis stimulated lipoprotein receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11668240 LSR lipolysis stimulated lipoprotein receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 11668286 FAM234A family with sequence similarity 234 member A gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1345598 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 11668286 FAM234A family with sequence similarity 234 member A gene DOID:1826 epilepsy ISO RGD:1345598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 11668286 FAM234A family with sequence similarity 234 member A gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11668286 FAM234A family with sequence similarity 234 member A gene DOID:2513 basal cell carcinoma ISO RGD:1345598 D RGD:9068941 20240606 CTD CTD Direct Evidence: marker/mechanism PMID:36428691 11668286 FAM234A family with sequence similarity 234 member A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:0050465 Muir-Torre syndrome ISO RGD:732571 D RGD:9068941 20220825 MouseDO OMIM:158320 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:10283 prostate cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:SNP:intron:increased risk in carriers of minor allele of SNP rs760317 PMID:15705877|REF_RGD_ID:2289878 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:10283 prostate cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:SNP:intron:reduced risk in carriers of minor allele of SNP rs760317 PMID:17548701|REF_RGD_ID:2289869 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:10283 prostate cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:methylation percentage 15% in tumors vs no methylation in nonmalignant prostate PMID:11839671|REF_RGD_ID:2289896 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:11054 urinary bladder cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:hypermethylation found in 16/98 (16%) of tumors, associated with poor survival PMID:11751381|REF_RGD_ID:2289897 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:11054 urinary bladder cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD associated with Schistosomiasis;DNA:hypermethylation:urinary bladder PMID:15154012|REF_RGD_ID:2301233 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:11054 urinary bladder cancer ISO RGD:732571 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:15591090|REF_RGD_ID:2301232 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:11372 megacolon ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:12849 autistic disorder ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:13938 amenorrhea ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:1749 squamous cell carcinoma ISO RGD:1344220 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; DNA:hypermethylation,loss of heterozygosity:promoter,locus:hypermethylation in 24%, LOH in 10% of tumors PMID:17467893|REF_RGD_ID:2289871 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:2999 granulosa cell tumor ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter, ovary PMID:15574200|REF_RGD_ID:2298508 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:3008 invasive ductal carcinoma ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity,hypermethylation:breast:LOH in 8/40 tumors (20%), hypermethylation in 22/46 tumors (48%), significant positive association found (p=0.04) PMID:12231533|REF_RGD_ID:2289894 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:303 substance-related disorder ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:305 carcinoma ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16061637 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11788890 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1344220 D RGD:9068941 20200609 RGD PMID:9850082|REF_RGD_ID:13792770 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:intron: PMID:9635574|REF_RGD_ID:13792815 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:4440 seminoma ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression::no expression observed in less mature seminomatous neoplastic tissues; re-expression seen in mature teratomatous tissues PMID:12379753|REF_RGD_ID:2289879 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:4450 renal cell carcinoma ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:translocation::t(3;8)(p14;q24.1) results in disruption of FHIT and TRC8/RNF139 genes PMID:17539022|REF_RGD_ID:2289870 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:4450 renal cell carcinoma ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression::reduced or negative expression in 78% of clear cell RCCs PMID:10530564|REF_RGD_ID:2289903 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:5419 schizophrenia ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28580594 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:670 amphetamine abuse ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:684 hepatocellular carcinoma ISO RGD:620448 D RGD:9068941 20200609 RGD PMID:12112319|REF_RGD_ID:632723 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9000217 Stomach Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12958204 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:14670177|REF_RGD_ID:2301235 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:732571 D RGD:9068941 20230504 RGD PMID:30107138|REF_RGD_ID:329349307 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17548701 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD mRNA,DNA:alternative form,loss of heterozygosity::abnormal transcript in 2/54 cases (4%), LOH in 8/54 cases (15%) PMID:9569038|REF_RGD_ID:2289905 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD associated with smoking; DNA:decreased expression,deletions,gene instability::frequency of genomic alterations significantly higher for smokers than nonsmokers (P<0.02) PMID:16115913|REF_RGD_ID:2289874 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; DNA:hypermethylation,loss of heterozygosity:promoter,locus:hypermethylation in 24%, LOH in 10% of tumors PMID:17467893|REF_RGD_ID:2289871 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9003373 Uterine Cervical Neoplasms no_association ISO RGD:1344220 D RGD:9068941 20200609 RGD mRNA:alternative form::all tumors examined had full-length transcripts despite LOH at 3p14 in 39%, frequency of minor transcripts the same in tumors and normal tissues PMID:9462708|REF_RGD_ID:2289906 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9003566 Mesothelioma ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14569398|PMID:18038314 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9004643 Urologic Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23618899 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9005172 Lung Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10959838|PMID:16061637 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9005804 Vulvar Neoplasms disease_progression ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression:vulva, squamous epithelial cell PMID:16608079|REF_RGD_ID:2301231 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9007188 Liver Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12112319 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium:loss of expression in 41/111 (37%) of tumors, significantly associated with poor survival and/or poor prognostic indicators PMID:10873085|REF_RGD_ID:2289899 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9008939 Breast Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD lobular breast cancer; DNA:loss of heterozygosity::LOH within the FHIT gene in 16% of cases, significant association between LOH and reduced or negative expression PMID:10930803|REF_RGD_ID:2289898 11668325 FHIT fragile histidine triad diadenosine triphosphatase gene DOID:9008939 Breast Neoplasms severity ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression:breast:frequency increases from 0% in nonproliferative benign breast disease to 41% in invasive carcinoma PMID:17164758|REF_RGD_ID:2289872 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:734036 D RGD:9068941 20220825 MouseDO 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:734035 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:25741868|PMID:26392352|PMID:28492532 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0050902 medulloblastoma ISO RGD:734035 D RGD:7240710 20211020 OMIM 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0050902 medulloblastoma ISO RGD:734035 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:11179008|PMID:11179021|PMID:12116234|PMID:16199547|PMID:18303054|PMID:22975760|PMID:24173031|PMID:25741868|PMID:26392352|PMID:28492532|PMID:29289840|PMID:32296180 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0050902 medulloblastoma ISO RGD:734035 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:11179008|PMID:11179021|PMID:12116234|PMID:16199547|PMID:16964593|PMID:17206408|PMID:17576681|PMID:18303054|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:24173031|PMID:25741868|PMID:26392352|PMID:27065010|PMID:28492532|PMID:29289840|PMID:29762696|PMID:32296180|PMID:9536098 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0050902 medulloblastoma ISO RGD:734035 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: ELP1-related condition | ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:11179008|PMID:11179021|PMID:12116234|PMID:16199547|PMID:16964593|PMID:17206408|PMID:17576681|PMID:18303054|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:24173031|PMID:25741868|PMID:26392352|PMID:27065010|PMID:28492532|PMID:29289840|PMID:29762696|PMID:32296180|PMID:36413997|PMID:9536098 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0060249 scoliosis ISO RGD:734035 D RGD:9068941 20200609 RGD PMID:11097445|REF_RGD_ID:5129159 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:734035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10090896|PMID:11179008|PMID:11179021|PMID:12116234|PMID:12687659|PMID:16964593|PMID:17206408|PMID:18091349|PMID:18197058|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29289840|PMID:29290691|PMID:9536098 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734035 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10090896|PMID:11179008|PMID:11179021|PMID:12116234|PMID:12687659|PMID:16964593|PMID:17206408|PMID:17576681|PMID:18091349|PMID:18197058|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29289840|PMID:29290691|PMID:29762696|PMID:9536098 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:11589 Riley-Day syndrome ISO RGD:734035 D RGD:7240710 20180130 OMIM 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:11589 Riley-Day syndrome ISO RGD:734035 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: ELP1-related condition | ClinVar Annotator: match by term: Familial dysautonomia PMID:10090896|PMID:11179008|PMID:11179021|PMID:12116234|PMID:12687659|PMID:16199547|PMID:16964593|PMID:17206408|PMID:17576681|PMID:18091349|PMID:18197058|PMID:18303054|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:24173031|PMID:24995671|PMID:25741868|PMID:26264438|PMID:26392352|PMID:27065010|PMID:27104957|PMID:27582484|PMID:28492532|PMID:29289840|PMID:29290691|PMID:29762696|PMID:32296180|PMID:34687117|PMID:36413997|PMID:9536098 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:1926 Gaucher's disease ISO RGD:734035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gaucher disease PMID:28492532 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:2841 asthma ISO RGD:734035 D RGD:9068941 20200609 RGD PMID:11281413|REF_RGD_ID:5129157 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:2841 asthma no_association ISO RGD:734035 D RGD:9068941 20200609 RGD PMID:12774215|REF_RGD_ID:5129158 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:4667 kyphosis ISO RGD:734035 D RGD:9068941 20200609 RGD PMID:11097445|REF_RGD_ID:5129159 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11668347 ELP1 elongator acetyltransferase complex subunit 1 gene DOID:9008939 Breast Neoplasms ISO RGD:734035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 11668388 MTNR1A melatonin receptor 1A gene DOID:0060041 autism spectrum disorder ISO RGD:1352571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20657642 11668388 MTNR1A melatonin receptor 1A gene DOID:12849 autistic disorder ISO RGD:1352571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11668388 MTNR1A melatonin receptor 1A gene DOID:12858 Huntington's disease ISO RGD:1352571 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:21994366|REF_RGD_ID:9686058 11668388 MTNR1A melatonin receptor 1A gene DOID:12858 Huntington's disease treatment ISO RGD:734169 D RGD:9068941 20200609 RGD PMID:21994366|REF_RGD_ID:9686058 11668388 MTNR1A melatonin receptor 1A gene DOID:2229 factor XI deficiency ISO RGD:1352571 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 11668388 MTNR1A melatonin receptor 1A gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:734169 D RGD:9068941 20200609 RGD protein:decreased expression:spinal chord PMID:23537713|REF_RGD_ID:13524569 11668388 MTNR1A melatonin receptor 1A gene DOID:5679 retinal disease ISO RGD:1352571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21915336 11668388 MTNR1A melatonin receptor 1A gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1352571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 11668388 MTNR1A melatonin receptor 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:620797 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:16441550|REF_RGD_ID:2301037 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736969 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:31983240|PMID:32058015|PMID:32344329|PMID:35373836|PMID:38816749|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050451 Brugada syndrome ISO RGD:736969 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:31983240|PMID:32058015|PMID:32344329|PMID:35373836|PMID:38816749|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10807545|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:29625280|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:8899564|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10807545|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:29625280|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:32429735|PMID:8899564|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:10807545|PMID:10973849|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:21907427|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24710009|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:28807990|PMID:29625280|PMID:30245029|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:32429735|PMID:8899564|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10807545|PMID:10973849|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:21907427|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23098067|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24710009|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:28807990|PMID:29625280|PMID:30245029|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31941373|PMID:32429735|PMID:8899564|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:10807545|PMID:10973849|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:21907427|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23098067|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24710009|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:28807990|PMID:29625280|PMID:30245029|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31941373|PMID:32429735|PMID:38816749|PMID:8899564|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0060224 atrial fibrillation ISO RGD:736969 D RGD:9068941 20200609 RGD PMID:12228786|REF_RGD_ID:1580498 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:736969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0080600 COVID-19 ISO RGD:736969 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:31983240|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34403091|PMID:34426522|PMID:35373836|PMID:38816749|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:31983240|PMID:32058015|PMID:32344329|PMID:32429735|PMID:32451364|PMID:34403091|PMID:34426522|PMID:35373836|PMID:38816749|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110647 long QT syndrome 5 ISO RGD:736969 D RGD:7240710 20180130 OMIM 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110647 long QT syndrome 5 ISO RGD:736969 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: KCNE1-related condition | ClinVar Annotator: match by term: Long QT syndrome 5 | ClinVar Annotator: match by term: Long QT syndrome 5, acquired, susceptibility to PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17130521|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:1939241|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:21907427|PMID:21967835|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23183700|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24217263|PMID:24314077|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25535795|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27076034|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28767663|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30079003|PMID:30123799|PMID:30245029|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:30975432|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:31983240|PMID:32058015|PMID:32145446|PMID:32164657|PMID:32344329|PMID:32429735|PMID:32451364|PMID:32470535|PMID:32508047|PMID:33693037|PMID:34403091|PMID:34426522|PMID:35027292|PMID:35373836|PMID:38816749|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110648 long QT syndrome 6 ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:25640679|PMID:28492532 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0111995 immunodeficiency 28 ISO RGD:736969 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:17237124|PMID:23512985|PMID:28492532 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736969 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24217263|PMID:28492532|PMID:38816749 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:736969 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:30461122|PMID:35027292|PMID:38816749 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:1588 thrombocytopenia ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome | ClinVar Annotator: match by term: Surdo-cardiac syndrome PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:736969 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:31983240|PMID:32058015|PMID:32344329|PMID:35373836|PMID:38816749|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32164657|PMID:32344329|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:21907427|PMID:21967835|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24314077|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28767663|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30245029|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:30975432|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32164657|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17130521|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:21907427|PMID:21967835|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24217263|PMID:24314077|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25535795|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27076034|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28767663|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30079003|PMID:30123799|PMID:30245029|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:30975432|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32145446|PMID:32164657|PMID:32344329|PMID:32429735|PMID:32470535|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17130521|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:1939241|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:21907427|PMID:21967835|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24217263|PMID:24314077|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25535795|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27076034|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28767663|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30079003|PMID:30123799|PMID:30245029|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:30975432|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32145446|PMID:32164657|PMID:32344329|PMID:32429735|PMID:32470535|PMID:34403091|PMID:34426522|PMID:35027292|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17130521|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:1939241|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:21907427|PMID:21967835|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24217263|PMID:24314077|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25535795|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27076034|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28767663|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30079003|PMID:30123799|PMID:30245029|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:30975432|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:31983240|PMID:32058015|PMID:32145446|PMID:32164657|PMID:32344329|PMID:32429735|PMID:32451364|PMID:32470535|PMID:34403091|PMID:34426522|PMID:35027292|PMID:35373836|PMID:38816749|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome susceptibility ISO RGD:736969 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.D85N(human) PMID:19695459|REF_RGD_ID:11072353 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:4440 seminoma ISO RGD:736969 D RGD:9068941 20200609 RGD PMID:15389592|REF_RGD_ID:1580497 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:6000 congestive heart failure ISO RGD:2956 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (RDO:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:6000 congestive heart failure ISO RGD:736969 D RGD:9068941 20200609 RGD mRNA:increased expression:endocardium of right ventricle: PMID:17384445|REF_RGD_ID:12910696 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9000059 Long QT Syndrome 2/5 ISO RGD:736969 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/5, digenic PMID:10807545|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:18426444|PMID:19305408|PMID:19695459|PMID:20823649|PMID:21244686|PMID:21712262|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:29625280|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:32429735|PMID:38816749|PMID:8899564|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736969 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:38816749 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noise induced hearing loss PMID:12402336|PMID:14661677|PMID:14760488|PMID:15599693|PMID:16487223|PMID:17161064|PMID:17210839|PMID:17597962|PMID:18426444|PMID:22581653|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7828904|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:736969 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:31983240|PMID:32058015|PMID:32344329|PMID:35373836|PMID:38816749|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:736969 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 PMID:17237124|PMID:23512985|PMID:28492532|PMID:32581362 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9004538 Hearing Loss ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hearing loss and deafness 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:736969 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:31983240|PMID:32058015|PMID:32344329|PMID:32429735|PMID:32451364|PMID:34403091|PMID:34426522|PMID:35373836|PMID:38816749|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9005444 Torsades de Pointes ISO RGD:736969 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.D85N (rs1805128)(human) PMID:22100668|REF_RGD_ID:11066279 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007 sudden infant death syndrome ISO RGD:736969 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868|PMID:28492532|PMID:30461122|PMID:35027292|PMID:38816749 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007577 Jervell And Lange-Nielsen Syndrome 2 ISO RGD:736969 D RGD:7240710 20180130 OMIM 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007577 Jervell And Lange-Nielsen Syndrome 2 ISO RGD:736969 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 2 PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17130521|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19340287|PMID:1939241|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:28003625|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29032884|PMID:29625280|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:31983240|PMID:32058015|PMID:32164657|PMID:32344329|PMID:32429735|PMID:32470535|PMID:32508047|PMID:34403091|PMID:34426522|PMID:35373836|PMID:38816749|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 11668394 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007820 Sudden Death ISO RGD:736969 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:31983240|PMID:32058015|PMID:32344329|PMID:35373836|PMID:38816749|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 11668443 CLDN16 claudin 16 gene DOID:0060879 primary hypomagnesemia ISO RGD:1351544 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Primary hypomagnesemia PMID:10390358|PMID:10878661|PMID:10995564|PMID:11518780|PMID:15856319|PMID:16234325|PMID:16501001|PMID:16705067|PMID:18003771|PMID:20607983|PMID:24033266|PMID:25477417|PMID:25741868|PMID:25852890|PMID:26426912|PMID:28492532|PMID:28893421|PMID:32860008|PMID:32869508|PMID:33532864|PMID:38078932|PMID:668721 11668443 CLDN16 claudin 16 gene DOID:0060880 renal hypomagnesemia 3 ISO RGD:1351544 D RGD:7240710 20180228 OMIM 11668443 CLDN16 claudin 16 gene DOID:0060880 renal hypomagnesemia 3 ISO RGD:1351544 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: HYPOMAGNESEMIA 3, RENAL PMID:28492532 11668443 CLDN16 claudin 16 gene DOID:0060881 renal hypomagnesemia 5 with ocular involvement ISO RGD:1351544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement 11668443 CLDN16 claudin 16 gene DOID:10763 hypertension ISO RGD:620322 D RGD:9068941 20200609 RGD Protein:decreased serine phosphorylation:kidney PMID:16959063|REF_RGD_ID:1599616 11668443 CLDN16 claudin 16 gene DOID:12679 nephrocalcinosis ISO RGD:1351544 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:10390358|PMID:25741868|PMID:28893421 11668443 CLDN16 claudin 16 gene DOID:447 renal tubular transport disease susceptibility ISO RGD:1351544 D RGD:9068941 20200609 RGD DNA:mutation: ; PRIMARY HYPOMAGNESEMIA, OMIM#248250 PMID:10390358|REF_RGD_ID:1599615 11668443 CLDN16 claudin 16 gene DOID:5419 schizophrenia ISO RGD:1351544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11668443 CLDN16 claudin 16 gene DOID:630 genetic disease ISO RGD:1351544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33532864 11668443 CLDN16 claudin 16 gene DOID:9001738 Hypercalciuria ISO RGD:1351544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercalciuria, childhood, self-limiting PMID:14628289 11668443 CLDN16 claudin 16 gene DOID:9005805 Thrombocytopenia 5 ISO RGD:1351544 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 5 PMID:25741868 11668443 CLDN16 claudin 16 gene DOID:9007711 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ISO RGD:1351544 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome PMID:12164927|PMID:15521008|PMID:16619213|PMID:25741868|PMID:28492532 11668478 ATP5MK ATP synthase membrane subunit k gene DOID:0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 ISO RGD:1347198 D RGD:7240710 20191211 OMIM 11668478 ATP5MK ATP synthase membrane subunit k gene DOID:0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 ISO RGD:1347198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 PMID:25741868|PMID:29917077 11668478 ATP5MK ATP synthase membrane subunit k gene DOID:3873 desmoplastic/nodular medulloblastoma ISO RGD:1347198 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma PMID:12068298 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:0080202 adenoid cystic carcinoma treatment ISO RGD:1354062 D RGD:9068941 20211022 RGD PMID:23027130|REF_RGD_ID:150519921 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:10534 stomach cancer ameliorates ISO RGD:1354062 D RGD:9068941 20211022 RGD PMID:30452981|REF_RGD_ID:150519920 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1354062 D RGD:8554872 20231114 ClinVar ClinVar Annotator: match by term: Neonatal cardiomyopathy PMID:25741868 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:1824 status epilepticus ISO RGD:1354062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635431 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:2717 Bloom syndrome ISO RGD:1354062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:289 endometriosis ISO RGD:1354062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:3008 invasive ductal carcinoma ISO RGD:1354062 D RGD:9068941 20211022 RGD mRNA,protein:increased expression:breast: PMID:20802235|REF_RGD_ID:150520014 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:3070 high grade glioma ISO RGD:1354062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24705251 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354062 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:10209957|REF_RGD_ID:2325663 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1354062 D RGD:9068941 20200609 RGD PMID:11295066|REF_RGD_ID:2325660 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:5154 borna disease ISO RGD:3214 D RGD:9068941 20240222 RGD mRNA:decreased expression:cerebellum,hippocampus PMID:11175319|REF_RGD_ID:2325644 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1354062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3214 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord PMID:18585435|REF_RGD_ID:2308892 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9000403 Animal Mammary Neoplasms ameliorates ISO RGD:737043 D RGD:9068941 20211022 RGD PMID:20802235|REF_RGD_ID:150520014 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9004354 Alcohol-Related Disorders ISO RGD:3214 D RGD:9068941 20240229 RGD protein:altered expression:brain PMID:15188276|PMID:15188277|REF_RGD_ID:401976554|REF_RGD_ID:401976555 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3214 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglion PMID:9541170|REF_RGD_ID:2325654 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9009121 lung metastasis ameliorates ISO RGD:737043 D RGD:9068941 20211022 RGD associated with mammary carcinoma PMID:20802235|REF_RGD_ID:150520014 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1354062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29119387 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9256 colorectal cancer ISO RGD:1354062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11668492 NTRK3 neurotrophic receptor tyrosine kinase 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1354062 D RGD:9068941 20211022 RGD PMID:33593392|REF_RGD_ID:150520009 11668525 FBXO33 F-box protein 33 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316797 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11668577 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:0080600 COVID-19 ISO RGD:1313378 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11668577 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:2234 focal epilepsy ISO RGD:1313378 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11668577 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:5810 adenosine deaminase deficiency ISO RGD:1313378 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:26255240|PMID:26376800|PMID:28492532 11668577 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:684 hepatocellular carcinoma ISO RGD:1313378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11668577 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11668577 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:9004814 Chromosome Aberrations ISO RGD:1313378 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27129209 11668577 UBE2C ubiquitin conjugating enzyme E2 C gene DOID:9008939 Breast Neoplasms ISO RGD:1313378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 11668596 TYMS thymidylate synthetase gene DOID:0050861 colorectal adenocarcinoma ISO RGD:3921 D RGD:9068941 20200609 RGD protein:increased activity:colon (rat) PMID:10226549|REF_RGD_ID:2317418 11668596 TYMS thymidylate synthetase gene DOID:0050873 follicular lymphoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16410450 11668596 TYMS thymidylate synthetase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365025 11668596 TYMS thymidylate synthetase gene DOID:0060984 digenic dyskeratosis congenita ISO RGD:732334 D RGD:7240710 20221207 OMIM 11668596 TYMS thymidylate synthetase gene DOID:0060984 digenic dyskeratosis congenita ISO RGD:732334 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, digenic PMID:25741868|PMID:35931051 11668596 TYMS thymidylate synthetase gene DOID:0080600 COVID-19 ISO RGD:732334 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11668596 TYMS thymidylate synthetase gene DOID:11054 urinary bladder cancer ISO RGD:3921 D RGD:9068941 20200609 RGD PMID:18463958|REF_RGD_ID:2317413 11668596 TYMS thymidylate synthetase gene DOID:12849 autistic disorder ISO RGD:732334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11668596 TYMS thymidylate synthetase gene DOID:1520 colon carcinoma ISO RGD:732334 D RGD:9068941 20200609 RGD human tumor in mouse model PMID:17848948|REF_RGD_ID:5133430 11668596 TYMS thymidylate synthetase gene DOID:169 neuroendocrine tumor ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18281538 11668596 TYMS thymidylate synthetase gene DOID:1749 squamous cell carcinoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16280240 11668596 TYMS thymidylate synthetase gene DOID:1793 pancreatic cancer ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 11668596 TYMS thymidylate synthetase gene DOID:1984 rectal benign neoplasm ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16931962 11668596 TYMS thymidylate synthetase gene DOID:2355 anemia ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 11668596 TYMS thymidylate synthetase gene DOID:2729 dyskeratosis congenita ISO RGD:732334 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:25741868|PMID:35931051 11668596 TYMS thymidylate synthetase gene DOID:3526 cerebral infarction susceptibility ISO RGD:732334 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes: (rs502396,rs16430,rs8423) PMID:20458436|REF_RGD_ID:401794454 11668596 TYMS thymidylate synthetase gene DOID:3910 lung adenocarcinoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11668596 TYMS thymidylate synthetase gene DOID:674 cleft palate ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 11668596 TYMS thymidylate synthetase gene DOID:684 hepatocellular carcinoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18019677|PMID:18230555 11668596 TYMS thymidylate synthetase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:deletion:3'UTR:1494del6(human) PMID:17659576|REF_RGD_ID:14696708 11668596 TYMS thymidylate synthetase gene DOID:7148 rheumatoid arthritis treatment ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:22763757|REF_RGD_ID:11075093 11668596 TYMS thymidylate synthetase gene DOID:7693 abdominal aortic aneurysm susceptibility ISO RGD:732334 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes:intron, 3'utr: (rs502396,rs16430,rs8423) (human) PMID:18635682|REF_RGD_ID:329853746 11668596 TYMS thymidylate synthetase gene DOID:863 nervous system disease ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 11668596 TYMS thymidylate synthetase gene DOID:9000217 Stomach Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15837757|PMID:18505590|PMID:18652704|PMID:19020767 11668596 TYMS thymidylate synthetase gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:732334 D RGD:9068941 20200609 RGD associated with Gastrointestinal Neoplasms;DNA:SNPs: : PMID:25677447|REF_RGD_ID:11081002 11668596 TYMS thymidylate synthetase gene DOID:9002304 Prostatic Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15999119 11668596 TYMS thymidylate synthetase gene DOID:9002720 Splenomegaly ISO RGD:3921 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:spleen (rat) PMID:11554613|REF_RGD_ID:5133431 11668596 TYMS thymidylate synthetase gene DOID:9002762 Ovarian Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21795601 11668596 TYMS thymidylate synthetase gene DOID:9002928 Colonic Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15355913|PMID:16284371|PMID:16609021|PMID:18192902|PMID:18652704|PMID:19105824 11668596 TYMS thymidylate synthetase gene DOID:9004351 Digestive System Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18281538 11668596 TYMS thymidylate synthetase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11668596 TYMS thymidylate synthetase gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18192902 11668596 TYMS thymidylate synthetase gene DOID:9005172 Lung Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18281538|PMID:19020767 11668596 TYMS thymidylate synthetase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3921 D RGD:9068941 20200609 RGD PMID:9635926|REF_RGD_ID:2315839 11668596 TYMS thymidylate synthetase gene DOID:9005873 Tongue Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16280240 11668596 TYMS thymidylate synthetase gene DOID:9006169 Head and Neck Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 11668596 TYMS thymidylate synthetase gene DOID:9006205 Animal Disease Models ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11668596 TYMS thymidylate synthetase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648163|PMID:21064136|PMID:25007187|PMID:26077125 11668596 TYMS thymidylate synthetase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732334 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs2853741 (human) PMID:28347776|REF_RGD_ID:152995291 11668596 TYMS thymidylate synthetase gene DOID:9008443 Colorectal Neoplasms ISO RGD:3921 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:adenocarcinoma (rat) PMID:10523711|REF_RGD_ID:5133433 11668596 TYMS thymidylate synthetase gene DOID:9008443 Colorectal Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15222106|PMID:15386371|PMID:15500737|PMID:16141798|PMID:16943523|PMID:17047489|PMID:17943475|PMID:18607850|PMID:18676755|PMID:19020767|PMID:25944804 11668596 TYMS thymidylate synthetase gene DOID:9008939 Breast Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16723031|PMID:19020767|PMID:21501481 11668596 TYMS thymidylate synthetase gene DOID:9008972 Hyperammonemia ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20714149 11668596 TYMS thymidylate synthetase gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:repeats,insertion/deletion:5'UTR, 3'UTR: PMID:18774170|REF_RGD_ID:11075096 11668596 TYMS thymidylate synthetase gene DOID:9296 cleft lip ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 11668596 TYMS thymidylate synthetase gene DOID:936 brain disease ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20714149 11668596 TYMS thymidylate synthetase gene DOID:9538 multiple myeloma no_association ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:repeats:5'UTR: PMID:17655928|REF_RGD_ID:11075095 11668596 TYMS thymidylate synthetase gene DOID:9538 multiple myeloma treatment ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:17512053|REF_RGD_ID:11075094 11668596 TYMS thymidylate synthetase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:repeats: : rs347430033(human) PMID:25007187|REF_RGD_ID:11080979 11668607 LYPD4 LY6/PLAUR domain containing 4 gene DOID:0061010 craniosynostosis 1 ISO RGD:1602183 D RGD:8554872 20241203 ClinVar ClinVar Annotator: match by term: TWIST1-related craniosynostosis PMID:28492532 11668607 LYPD4 LY6/PLAUR domain containing 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 11668607 LYPD4 LY6/PLAUR domain containing 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 11668607 LYPD4 LY6/PLAUR domain containing 4 gene DOID:5419 schizophrenia ISO RGD:1602183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11668607 LYPD4 LY6/PLAUR domain containing 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 11668607 LYPD4 LY6/PLAUR domain containing 4 gene DOID:9269 maple syrup urine disease ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 11668620 LOC100977487 diphosphoinositol polyphosphate phosphohydrolase 3-beta gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11668620 LOC100977487 diphosphoinositol polyphosphate phosphohydrolase 3-beta gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1343668 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 11668620 LOC100977487 diphosphoinositol polyphosphate phosphohydrolase 3-beta gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1343668 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11668620 LOC100977487 diphosphoinositol polyphosphate phosphohydrolase 3-beta gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1343668 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders PMID:28492532 11668620 LOC100977487 diphosphoinositol polyphosphate phosphohydrolase 3-beta gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1343668 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 11668620 LOC100977487 diphosphoinositol polyphosphate phosphohydrolase 3-beta gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1343668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11668620 LOC100977487 diphosphoinositol polyphosphate phosphohydrolase 3-beta gene DOID:12849 autistic disorder ISO RGD:1343668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11668620 LOC100977487 diphosphoinositol polyphosphate phosphohydrolase 3-beta gene DOID:9000557 Thrombocytopenia 1 ISO RGD:1343668 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Thrombocytopenia, X-linked PMID:28492532 11668620 LOC100977487 diphosphoinositol polyphosphate phosphohydrolase 3-beta gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1343668 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 PMID:28492532 11668624 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0111957 immunodeficiency 11A ISO RGD:1350319 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:23374270|PMID:23561803|PMID:26289640|PMID:28492532|PMID:32581362 11668624 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0112361 spondylocostal dysostosis 3 ISO RGD:1350319 D RGD:7240710 20180130 OMIM 11668624 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0112361 spondylocostal dysostosis 3 ISO RGD:1350319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: LFNG-related condition | ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive PMID:16385447|PMID:17576681|PMID:25741868|PMID:28492532|PMID:29459493|PMID:30531807|PMID:9536098 11668624 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1350319 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:16385447 11668624 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1350319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11668624 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1350319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal PMID:22279524|PMID:25500575|PMID:28492532 11668624 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:1350319 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11668635 ADAD2 adenosine deaminase domain containing 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1602291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 11668635 ADAD2 adenosine deaminase domain containing 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1602291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 11668660 ATP6V1E2 ATPase H+ transporting V1 subunit E2 gene DOID:3883 Lynch syndrome ISO RGD:1323263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11668680 GRM3 glutamate metabotropic receptor 3 gene DOID:1826 epilepsy ISO RGD:732815 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 11668680 GRM3 glutamate metabotropic receptor 3 gene DOID:1909 melanoma ISO RGD:732815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21946352|PMID:22842228 11668680 GRM3 glutamate metabotropic receptor 3 gene DOID:3328 temporal lobe epilepsy ISO RGD:732815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18804094 11668680 GRM3 glutamate metabotropic receptor 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11668680 GRM3 glutamate metabotropic receptor 3 gene DOID:5419 schizophrenia ISO RGD:732815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18256595 11668749 NUDT6 nudix hydrolase 6 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:735257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:26299366|PMID:28492532 11668749 NUDT6 nudix hydrolase 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11668767 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11668767 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11668767 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11668767 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11668767 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:5812 MHC class II deficiency ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11668767 OAZ3 ornithine decarboxylase antizyme 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11668806 NUP133 nucleoporin 133 gene DOID:0080393 nephrotic syndrome type 18 ISO RGD:1317249 D RGD:7240710 20190315 OMIM 11668806 NUP133 nucleoporin 133 gene DOID:0080393 nephrotic syndrome type 18 ISO RGD:1317249 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 18 PMID:25741868|PMID:28492532|PMID:30179222 11668806 NUP133 nucleoporin 133 gene DOID:1540 parathyroid carcinoma ISO RGD:1317249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11668806 NUP133 nucleoporin 133 gene DOID:9005443 Galloway-Mowat Syndrome 8 ISO RGD:1317249 D RGD:7240710 20190315 OMIM 11668806 NUP133 nucleoporin 133 gene DOID:9005443 Galloway-Mowat Syndrome 8 ISO RGD:1317249 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 | ClinVar Annotator: match by term: NUP133-related condition PMID:11793129|PMID:25741868|PMID:28492532|PMID:30427554 11668806 NUP133 nucleoporin 133 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1317249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 11668806 NUP133 nucleoporin 133 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11668837 CHRDL1 chordin like 1 gene DOID:0060305 megalocornea ISO RGD:1349204 D RGD:7240710 20241120 OMIM 11668837 CHRDL1 chordin like 1 gene DOID:0060305 megalocornea ISO RGD:1349204 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: CHRDL1-related condition | ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea PMID:22284829|PMID:25093588|PMID:25712132|PMID:25741868|PMID:26938784|PMID:28492532 11668837 CHRDL1 chordin like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11668837 CHRDL1 chordin like 1 gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1349204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 11668837 CHRDL1 chordin like 1 gene DOID:0111823 autosomal hemophilia A ISO RGD:1349204 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 11668837 CHRDL1 chordin like 1 gene DOID:12134 factor VIII deficiency ISO RGD:1349204 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 11668837 CHRDL1 chordin like 1 gene DOID:12849 autistic disorder ISO RGD:1349204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11668837 CHRDL1 chordin like 1 gene DOID:5419 schizophrenia ISO RGD:1349204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11668837 CHRDL1 chordin like 1 gene DOID:630 genetic disease ISO RGD:1349204 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11668860 RPE ribulose-5-phosphate-3-epimerase gene DOID:14557 primary pulmonary hypertension ISO RGD:1320609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11668860 RPE ribulose-5-phosphate-3-epimerase gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1320609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 11668860 RPE ribulose-5-phosphate-3-epimerase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1321051 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells PMID:25741868|PMID:28492532 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1321051 D RGD:7240710 20180509 OMIM 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1321051 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:10024875|PMID:11809908|PMID:14566336|PMID:16199547|PMID:16507770|PMID:16537806|PMID:16551969|PMID:17576681|PMID:23265383|PMID:23403622|PMID:24033266|PMID:25741868|PMID:25980904|PMID:27781387|PMID:28132693|PMID:28492532|PMID:31898847|PMID:32935436|PMID:33217554|PMID:34170459|PMID:36941763|PMID:8042664|PMID:9536098 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:10283 prostate cancer ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:1227 neutropenia ISO RGD:1321051 D RGD:9068941 20200609 RGD PMID:12125811|REF_RGD_ID:1578409 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:12800 mucopolysaccharidosis VI ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 PMID:10036316|PMID:17458871|PMID:18486607|PMID:28492532 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:1588 thrombocytopenia ISO RGD:1321051 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:32935436 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:2213 hemorrhagic disease ISO RGD:1321051 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:32935436 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:1321052 D RGD:9068941 20220825 MouseDO OMIM:185050 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1321051 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:31898847 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1321051 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24033266|PMID:25741868|PMID:28132693|PMID:28492532|PMID:31898847|PMID:33217554 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:3082 interstitial lung disease ISO RGD:1321051 D RGD:9068941 20200609 RGD associated with Hermansky-Pudlak Syndrome 2;DNA:snps, missense mutation, nonsense mutations:exons, introns:multiple (human) PMID:22009278|REF_RGD_ID:11096518 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:16507770|PMID:23403622|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31898847 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1321051 D RGD:9068941 20200609 RGD PMID:12125811|REF_RGD_ID:1578409 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:5339 cyclic hematopoiesis ISO RGD:12137585 D RGD:9068941 20230921 OMIA Neutropenia, cyclic PMID:1013155|PMID:1167851|PMID:1251140|PMID:1259228|PMID:12750178|PMID:127610|PMID:12897784|PMID:1379221|PMID:15059607|PMID:15576359|PMID:16610934|PMID:1699776|PMID:17053055|PMID:173440|PMID:1893969|PMID:18951469|PMID:19208418|PMID:19941936|PMID:2172633|PMID:22285163|PMID:22845776|PMID:2458781|PMID:2830927|PMID:2945680|PMID:2979797|PMID:3026784|PMID:3181344|PMID:336117|PMID:347941|PMID:3491636|PMID:351627|PMID:35904319|PMID:3607647|PMID:37673175|PMID:3996494|PMID:4170467|PMID:438337|PMID:4430726|PMID:4587264|PMID:4591036|PMID:4612548|PMID:4703853|PMID:47249|PMID:4795953|PMID:4796766|PMID:4834515|PMID:5054471|PMID:5054472|PMID:5366324|PMID:5529685|PMID:5534257|PMID:5581910|PMID:568046|PMID:6067150|PMID:6096876|PMID:6506453|PMID:6759148|PMID:6803622|PMID:6837566|PMID:6846503|PMID:6853718|PMID:686147|PMID:6884440|PMID:6972315|PMID:6976196|PMID:7011123|PMID:7059519|PMID:7060078|PMID:7066210|PMID:710550|PMID:719169|PMID:7281477|PMID:7350939|PMID:738429|PMID:738763|PMID:7405719|PMID:7474871|PMID:7519075|PMID:7528575|PMID:8737267|PMID:955040|PMID:995965 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:630 genetic disease ISO RGD:1321051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11668888 AP3B1 adaptor related protein complex 3 subunit beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:731329 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:0110994 Joubert syndrome 25 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:0111934 immunodeficiency 38 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:0111935 immunodeficiency 16 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:83 cataract ISO RGD:1550985 D RGD:9068941 20220825 MouseDO OMIM:601371 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:9001743 Cataract 49 ISO RGD:731329 D RGD:7240710 20211110 OMIM 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:9001743 Cataract 49 ISO RGD:731329 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cataract 49 PMID:25741868|PMID:30585370 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:731329 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 11668918 PANK4 pantothenate kinase 4 (inactive) gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11668940 TM6SF1 transmembrane 6 superfamily member 1 gene DOID:13938 amenorrhea ISO RGD:1317482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11668940 TM6SF1 transmembrane 6 superfamily member 1 gene DOID:2717 Bloom syndrome ISO RGD:1317482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11668940 TM6SF1 transmembrane 6 superfamily member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11668940 TM6SF1 transmembrane 6 superfamily member 1 gene DOID:9256 colorectal cancer ISO RGD:1317482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11668957 YJEFN3 YjeF N-terminal domain containing 3 gene DOID:11054 urinary bladder cancer ISO RGD:1605797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11668982 GGACT gamma-glutamylamine cyclotransferase gene DOID:0110878 holoprosencephaly 5 ISO RGD:2299985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 11668982 GGACT gamma-glutamylamine cyclotransferase gene DOID:14701 propionic acidemia ISO RGD:2299985 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:15464417|PMID:19157943|PMID:22033733|PMID:25741868|PMID:28492532 11668982 GGACT gamma-glutamylamine cyclotransferase gene DOID:4621 holoprosencephaly ISO RGD:2299985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 11668982 GGACT gamma-glutamylamine cyclotransferase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:2299985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11669000 CPNE3 copine 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1354126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1354126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:1596 depressive disorder ISO RGD:1354126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21871532 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:1596 depressive disorder susceptibility ISO RGD:732064 D RGD:9068941 20200609 RGD PMID:16906152|REF_RGD_ID:9831184 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:1826 epilepsy susceptibility ISO RGD:732064 D RGD:9068941 20200609 RGD PMID:15175651|REF_RGD_ID:9831121 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:224 transient cerebral ischemia ISO RGD:621448 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:25062759|REF_RGD_ID:9831122 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:224 transient cerebral ischemia severity ISO RGD:732064 D RGD:9068941 20200609 RGD PMID:15175651|REF_RGD_ID:9831121 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:621448 D RGD:9068941 20200609 RGD PMID:24154701|REF_RGD_ID:9831178 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:2316 brain ischemia ISO RGD:621448 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:14741413|REF_RGD_ID:9831127 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:5844 myocardial infarction ISO RGD:621448 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle, epicardium, endocardium (rat) PMID:21683547|REF_RGD_ID:9831182 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:6000 congestive heart failure ISO RGD:621448 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary:mRNA:decreased expression:heart right ventricle (rat) PMID:25016242|REF_RGD_ID:9831185 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:621448 D RGD:9068941 20200609 RGD PMID:22425721|REF_RGD_ID:9831183 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:9002211 Hyperalgesia ISO RGD:732064 D RGD:9068941 20200609 RGD PMID:16675954|REF_RGD_ID:9831112 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621448 D RGD:9068941 20200609 RGD protein:increased expression:endocardium of left ventricle (rat) PMID:23232841|REF_RGD_ID:9831114 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:9005372 Inflammation ISO RGD:621448 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglia (rat) PMID:22273507|REF_RGD_ID:9831113 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:621448 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle, epicardium, endocardium (rat) PMID:24705172|REF_RGD_ID:9831164 11669039 KCNK2 potassium two pore domain channel subfamily K member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1353807 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1353807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1353807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1353807 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:23892090|PMID:28492532|PMID:31602316 11669056 PUSL1 pseudouridine synthase like 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 11669068 RCSD1 RCSD domain containing 1 gene DOID:0111942 immunodeficiency 25 ISO RGD:1603598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 11669068 RCSD1 RCSD domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11669068 RCSD1 RCSD domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11669068 RCSD1 RCSD domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1320359 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1320359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0112097 nuclear type mitochondrial complex I deficiency 33 ISO RGD:1320359 D RGD:7240710 20190315 OMIM 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0112097 nuclear type mitochondrial complex I deficiency 33 ISO RGD:1320359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | ClinVar Annotator: match by term: NDUFA6-related condition PMID:25741868|PMID:28492532|PMID:30245030|PMID:30847515 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:1059 intellectual disability ISO RGD:1320359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:10652 Alzheimer's disease ISO RGD:1320359 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:26943237|REF_RGD_ID:11572212 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:630 genetic disease ISO RGD:1320359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30245030|PMID:30847515 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:700 mitochondrial metabolism disease ISO RGD:1320359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disorder PMID:30245030|PMID:30847515 11669093 NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1320359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 11669100 TGM3 transglutaminase 3 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1343492 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 11669100 TGM3 transglutaminase 3 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1343492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 11669100 TGM3 transglutaminase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1343492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11669100 TGM3 transglutaminase 3 gene DOID:9001368 Uncombable Hair Syndrome 2 ISO RGD:1343492 D RGD:7240710 20190315 OMIM 11669100 TGM3 transglutaminase 3 gene DOID:9001368 Uncombable Hair Syndrome 2 ISO RGD:1343492 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: TGM3-related condition | ClinVar Annotator: match by term: Uncombable hair syndrome 2 PMID:24183230|PMID:25741868|PMID:27866708|PMID:28492532 11669100 TGM3 transglutaminase 3 gene DOID:9005997 Uncombable Hair Syndrome ISO RGD:1343492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11669130 DNM2 dynamin 2 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:730970 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:25741868|PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:730970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:730970 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT PMID:16227997|PMID:17008356|PMID:17825552|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21514436|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24088041|PMID:24465259|PMID:25262827|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26908122|PMID:2734399|PMID:27343996|PMID:28492532|PMID:31017801|PMID:32315611|PMID:34463354|PMID:34595679|PMID:34837441|PMID:36324371 11669130 DNM2 dynamin 2 gene DOID:0080307 myofibrillar myopathy ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy PMID:25741868|PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:730970 D RGD:7240710 20180509 OMIM 11669130 DNM2 dynamin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:730970 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia PMID:15731758|PMID:16199547|PMID:16227997|PMID:17008356|PMID:17576681|PMID:17636067|PMID:17825552|PMID:17932957|PMID:18394888|PMID:18414213|PMID:18560793|PMID:19122038|PMID:19130742|PMID:19502294|PMID:19623537|PMID:19932619|PMID:19932620|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21514436|PMID:21762456|PMID:22091729|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22451505|PMID:22613877|PMID:23092955|PMID:23338057|PMID:23374900|PMID:23394783|PMID:23806086|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24215330|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25025039|PMID:25214167|PMID:25259927|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25640679|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26275793|PMID:26392352|PMID:26467025|PMID:26503427|PMID:26633545|PMID:26842864|PMID:26908122|PMID:27328317|PMID:2734399|PMID:27343996|PMID:27549087|PMID:27572814|PMID:27698851|PMID:27854218|PMID:28357347|PMID:28357410|PMID:28492532|PMID:28532469|PMID:28676641|PMID:28708278|PMID:28971531|PMID:29653220|PMID:30103202|PMID:30146126|PMID:30208955|PMID:30373780|PMID:31017801|PMID:31407473|PMID:32315611|PMID:32528171|PMID:32657593|PMID:32860008|PMID:33333461|PMID:33369814|PMID:33459893|PMID:34008892|PMID:34354735|PMID:34463354|PMID:34595679|PMID:34768808|PMID:34837441|PMID:35993408|PMID:36142275|PMID:36324371|PMID:36964972|PMID:9536098 11669130 DNM2 dynamin 2 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:730970 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:16199547|PMID:16227997|PMID:17008356|PMID:17825552|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19623537|PMID:19932619|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21514436|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23374900|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26503427|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27572814|PMID:27698851|PMID:27854218|PMID:28357410|PMID:28492532|PMID:28676641|PMID:30103202|PMID:31017801|PMID:32315611|PMID:32860008|PMID:34008892|PMID:34354735|PMID:34463354|PMID:34595679|PMID:34837441|PMID:36142275|PMID:36324371 11669130 DNM2 dynamin 2 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:730970 D RGD:7240710 20180509 OMIM 11669130 DNM2 dynamin 2 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:730970 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 1 PMID:16227997|PMID:17008356|PMID:17825552|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21514436|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24088041|PMID:24465259|PMID:25262827|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26908122|PMID:2734399|PMID:27343996|PMID:28492532|PMID:31017801|PMID:32315611|PMID:34463354|PMID:34595679|PMID:34837441|PMID:36324371 11669130 DNM2 dynamin 2 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:17932957|PMID:18414213|PMID:20227276|PMID:20700106|PMID:22396310|PMID:23338057|PMID:24135484|PMID:25741868|PMID:25957634|PMID:26199319|PMID:28492532|PMID:32860008 11669130 DNM2 dynamin 2 gene DOID:0111254 glutaric acidemia I ISO RGD:730970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:0111989 immunodeficiency 35 ISO RGD:730970 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Immunodeficiency 35 PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:730970 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15731758|PMID:16227997|PMID:17636067|PMID:18394888|PMID:18414213|PMID:20529869|PMID:20817456|PMID:21762456|PMID:22091729|PMID:22396310|PMID:22613877|PMID:24016602|PMID:25025039|PMID:25492887|PMID:25501959|PMID:25741868|PMID:27328317|PMID:28492532|PMID:28676641|PMID:34768808 11669130 DNM2 dynamin 2 gene DOID:11252 microcytic anemia ISO RGD:730971 D RGD:9068941 20221117 MouseDO OMIM:206200 11669130 DNM2 dynamin 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:730970 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:16250003|PMID:20809525|PMID:21382890|PMID:28492532|PMID:28645073 11669130 DNM2 dynamin 2 gene DOID:14717 centronuclear myopathy ISO RGD:730970 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:16227997|PMID:17008356|PMID:17825552|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19623537|PMID:19932619|PMID:19932620|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21514436|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24016602|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26503427|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:28357410|PMID:28492532|PMID:28676641|PMID:31017801|PMID:32315611|PMID:32860008|PMID:34463354|PMID:34595679|PMID:34837441|PMID:36142275|PMID:36324371 11669130 DNM2 dynamin 2 gene DOID:2975 cystic kidney disease ISO RGD:730971 D RGD:9068941 20220825 MouseDO 11669130 DNM2 dynamin 2 gene DOID:3413 alpha-mannosidosis ISO RGD:730970 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:422 congenital structural myopathy ISO RGD:730970 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:16227997|PMID:17008356|PMID:17932957|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28676641|PMID:30103202|PMID:32860008|PMID:34008892 11669130 DNM2 dynamin 2 gene DOID:422 congenital structural myopathy ISO RGD:730970 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:16199547|PMID:16227997|PMID:17008356|PMID:17825552|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19623537|PMID:19932619|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21514436|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23374900|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26503427|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27572814|PMID:27698851|PMID:27854218|PMID:28357410|PMID:28492532|PMID:28676641|PMID:30103202|PMID:31017801|PMID:32315611|PMID:32860008|PMID:34008892|PMID:34354735|PMID:34463354|PMID:34595679|PMID:34837441|PMID:36142275|PMID:36324371 11669130 DNM2 dynamin 2 gene DOID:423 myopathy ISO RGD:730970 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Myopathy PMID:16227997|PMID:17008356|PMID:17825552|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24465259|PMID:25262827|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:574 peripheral nervous system disease ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18414213|PMID:24728327|PMID:26467025|PMID:27854218|PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:630 genetic disease ISO RGD:730970 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:17636067|PMID:18414213|PMID:22730194|PMID:24215330|PMID:24728327|PMID:25214167|PMID:25501959|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26517984|PMID:27572814|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28532469|PMID:28708278|PMID:29653220|PMID:30103202|PMID:30146126|PMID:30208955|PMID:30373780|PMID:32657593|PMID:33333461|PMID:33369814|PMID:35993408|PMID:36964972|PMID:9536098 11669130 DNM2 dynamin 2 gene DOID:870 neuropathy ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18414213|PMID:24728327|PMID:26467025|PMID:27854218|PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:9004426 Lethal Congenital Contracture Syndrome 5 ISO RGD:730970 D RGD:7240710 20180509 OMIM 11669130 DNM2 dynamin 2 gene DOID:9004426 Lethal Congenital Contracture Syndrome 5 ISO RGD:730970 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 5 PMID:18414213|PMID:23092955|PMID:25741868|PMID:26467025|PMID:28492532 11669130 DNM2 dynamin 2 gene DOID:9008014 Charcot-Marie-Tooth Disease, Dominant Intermediate 1 ISO RGD:730970 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate 1 PMID:16227997|PMID:17008356|PMID:17636067|PMID:17825552|PMID:18414213|PMID:18560793|PMID:19130742|PMID:19502294|PMID:20227276|PMID:20529869|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21514436|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22451505|PMID:22613877|PMID:23092955|PMID:23338057|PMID:23394783|PMID:23806086|PMID:24088041|PMID:24465259|PMID:25259927|PMID:25262827|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26908122|PMID:2734399|PMID:27343996|PMID:28357347|PMID:28492532|PMID:31017801|PMID:32315611|PMID:34463354|PMID:34595679|PMID:34837441|PMID:36324371 11669130 DNM2 dynamin 2 gene DOID:9277 primary cerebellar degeneration ISO RGD:730970 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:17636067|PMID:25741868|PMID:28492532|PMID:30373780|PMID:35993408 11669241 SRGN serglycin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11669249 SCFD1 sec1 family domain containing 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:25741868 11669249 SCFD1 sec1 family domain containing 1 gene DOID:607 paraplegia ISO RGD:1350281 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:25552650|PMID:27444738|PMID:28492532 11669249 SCFD1 sec1 family domain containing 1 gene DOID:9004009 Reperfusion Injury ISO RGD:619828 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:9195952|REF_RGD_ID:633771 11669249 SCFD1 sec1 family domain containing 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350281 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11669283 CHST10 carbohydrate sulfotransferase 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1353236 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11669351 CHMP3 charged multivesicular body protein 3 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1351348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 11669376 LOC100971127 arachidonate 15-lipoxygenase type B gene DOID:0060041 autism spectrum disorder ISO RGD:731629 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11669376 LOC100971127 arachidonate 15-lipoxygenase type B gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:731629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11669376 LOC100971127 arachidonate 15-lipoxygenase type B gene DOID:0080600 COVID-19 ISO RGD:731629 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11669376 LOC100971127 arachidonate 15-lipoxygenase type B gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:731629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 11669376 LOC100971127 arachidonate 15-lipoxygenase type B gene DOID:12177 common variable immunodeficiency ISO RGD:731629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 11669376 LOC100971127 arachidonate 15-lipoxygenase type B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731629 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11669376 LOC100971127 arachidonate 15-lipoxygenase type B gene DOID:2729 dyskeratosis congenita ISO RGD:731629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 11669376 LOC100971127 arachidonate 15-lipoxygenase type B gene DOID:3012 Li-Fraumeni syndrome ISO RGD:731629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1316586 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:2773 contact dermatitis ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:2841 asthma ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21150878 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:289 endometriosis ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:303 substance-related disorder ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:5082 liver cirrhosis ISO RGD:1316586 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:33069761 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:684 hepatocellular carcinoma ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:9005172 Lung Neoplasms ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20562917 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316586 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11669405 CXCL14 C-X-C motif chemokine ligand 14 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1316586 D RGD:9068941 20240704 CTD CTD Direct Evidence: marker/mechanism PMID:38614205 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1320101 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:25741868|PMID:28492532|PMID:36909829 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:0050683 Bothnia retinal dystrophy ISO RGD:1320101 D RGD:7240710 20180130 OMIM 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:0050683 Bothnia retinal dystrophy ISO RGD:1320101 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY PMID:10102298|PMID:10102299|PMID:11449319|PMID:12536144|PMID:15234312|PMID:15953459|PMID:18344446|PMID:19846785|PMID:20238024|PMID:22171637|PMID:22183382|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28492532|PMID:31456290|PMID:32188692|PMID:32552793|PMID:34426522 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1320101 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:21447491|PMID:2392416|PMID:25429852|PMID:28492532 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:0111015 Newfoundland cone-rod dystrophy ISO RGD:1320101 D RGD:7240710 20180130 OMIM 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:0111015 Newfoundland cone-rod dystrophy ISO RGD:1320101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Newfoundland cone-rod dystrophy PMID:10102298|PMID:10102299|PMID:11301032|PMID:11449319|PMID:11868161|PMID:15953459|PMID:16199547|PMID:17576681|PMID:21447491|PMID:22171637|PMID:2392416|PMID:23929416|PMID:24265693|PMID:25356976|PMID:25429852|PMID:25741868|PMID:28492532|PMID:28559085|PMID:31872526|PMID:32188692|PMID:34410188|PMID:34795310|PMID:9536098 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1320101 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:17407155|PMID:28492532 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320101 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:12536144|PMID:14718298|PMID:15953459|PMID:17065479|PMID:18344446|PMID:19339744|PMID:19846785|PMID:20238024|PMID:22164218|PMID:22171637|PMID:22183382|PMID:22551409|PMID:23105016|PMID:23929416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:32188692|PMID:33188265|PMID:33851411|PMID:34410188|PMID:34795310|PMID:36247817|PMID:9326942 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320101 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:12536144|PMID:14718298|PMID:15953459|PMID:17065479|PMID:18344446|PMID:19339744|PMID:19846785|PMID:20238024|PMID:22164218|PMID:22171637|PMID:22183382|PMID:22551409|PMID:23105016|PMID:23929416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:32188692|PMID:32552793|PMID:33188265|PMID:33851411|PMID:34410188|PMID:34426522|PMID:34795310|PMID:36247817|PMID:9326942 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:7240710 20180130 OMIM 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:15234312|PMID:15953459|PMID:18344446|PMID:19846785|PMID:20238024|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:32188692|PMID:33188265|PMID:9326942 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens | ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominant PMID:10102298|PMID:10102299|PMID:11301032|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:14718298|PMID:15234312|PMID:15953459|PMID:17576681|PMID:18344446|PMID:19846785|PMID:20238024|PMID:21447491|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:2392416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:31456290|PMID:31872526|PMID:32188692|PMID:33188265|PMID:33851411|PMID:34795310|PMID:9326942|PMID:9536098 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10102298|PMID:10102299|PMID:11301032|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:14718298|PMID:15234312|PMID:15953459|PMID:17576681|PMID:18344446|PMID:19846785|PMID:20238024|PMID:21447491|PMID:22171637|PMID:22183382|PMID:22551409|PMID:23105016|PMID:2392416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:31456290|PMID:31872526|PMID:32188692|PMID:32552793|PMID:33188265|PMID:33851411|PMID:34426522|PMID:34795310|PMID:9326942|PMID:9536098 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1320101 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:17407155|PMID:28492532 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:4448 macular degeneration ISO RGD:1320101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30742112 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:5723 optic atrophy ISO RGD:1320101 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:630 genetic disease ISO RGD:1320101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:8499 night blindness ISO RGD:1320101 D RGD:9068941 20200609 RGD Fundus albipunctatus, OMIM:180090 PMID:11453974|REF_RGD_ID:1599620 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1320101 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10102298|PMID:10102299|PMID:11301032|PMID:11449319|PMID:12536144|PMID:15234312|PMID:15953459|PMID:17065479|PMID:18344446|PMID:19846785|PMID:20238024|PMID:21447491|PMID:22164218|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:2392416|PMID:23929416|PMID:24265693|PMID:24339724|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26103963|PMID:26355662|PMID:28041643|PMID:28492532|PMID:31456290|PMID:32188692|PMID:32552793|PMID:33851411|PMID:34426522|PMID:34795310|PMID:36259723 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1320101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968212 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1320101 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25326637|PMID:25741868|PMID:26355662|PMID:28492532|PMID:32188692|PMID:32552793|PMID:34426522 11669413 RLBP1 retinaldehyde binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1320101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11669424 CH25H cholesterol 25-hydroxylase gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1321560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 11669424 CH25H cholesterol 25-hydroxylase gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1321560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:28492532 11669429 ZSWIM5 zinc finger SWIM-type containing 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 11669429 ZSWIM5 zinc finger SWIM-type containing 5 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1321821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 11669429 ZSWIM5 zinc finger SWIM-type containing 5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1321821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11669429 ZSWIM5 zinc finger SWIM-type containing 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 11669429 ZSWIM5 zinc finger SWIM-type containing 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1321821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11669471 IMPA2 inositol monophosphatase 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1347157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11669471 IMPA2 inositol monophosphatase 2 gene DOID:1059 intellectual disability ISO RGD:1347157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11669471 IMPA2 inositol monophosphatase 2 gene DOID:289 endometriosis ISO RGD:1347157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11669471 IMPA2 inositol monophosphatase 2 gene DOID:3312 bipolar disorder ISO RGD:1347157 D RGD:9068941 20200609 RGD PMID:11673796|PMID:9322233|REF_RGD_ID:6480265|REF_RGD_ID:6480269 11669471 IMPA2 inositol monophosphatase 2 gene DOID:3312 bipolar disorder susceptibility ISO RGD:1347157 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-461C>T, -207T>C(human) PMID:14699425|REF_RGD_ID:6480267 11669471 IMPA2 inositol monophosphatase 2 gene DOID:5419 schizophrenia ISO RGD:1347157 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron,exons:-15G>A, 58G>A, 800C>T (human) PMID:11317223|REF_RGD_ID:6480266 11669471 IMPA2 inositol monophosphatase 2 gene DOID:543 dystonia ISO RGD:1347157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11669471 IMPA2 inositol monophosphatase 2 gene DOID:9007956 Febrile Seizures ISO RGD:1347157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15557493 11669483 KCTD21 potassium channel tetramerization domain containing 21 gene DOID:1059 intellectual disability ISO RGD:1603870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11669498 NT5DC2 5'-nucleotidase domain containing 2 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1601740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 11669498 NT5DC2 5'-nucleotidase domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1601740 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11669518 EPO erythropoietin gene DOID:0050700 cardiomyopathy ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16449733|PMID:16731534|PMID:17924179|PMID:17928571 11669518 EPO erythropoietin gene DOID:0050852 limb ischemia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23294128|REF_RGD_ID:10400895 11669518 EPO erythropoietin gene DOID:0050908 myelodysplastic syndrome ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12670338|PMID:16076383 11669518 EPO erythropoietin gene DOID:0060903 thrombosis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14979412|PMID:25013951 11669518 EPO erythropoietin gene DOID:0080290 familial erythrocytosis 5 ISO RGD:735849 D RGD:7240710 20190315 OMIM 11669518 EPO erythropoietin gene DOID:0080290 familial erythrocytosis 5 ISO RGD:735849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 5 PMID:27651169|PMID:29514032 11669518 EPO erythropoietin gene DOID:10652 Alzheimer's disease treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22004348|PMID:23813967|REF_RGD_ID:10395389|REF_RGD_ID:10400882 11669518 EPO erythropoietin gene DOID:1074 kidney failure ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22013135 11669518 EPO erythropoietin gene DOID:10763 hypertension ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10694834|PMID:1516988 11669518 EPO erythropoietin gene DOID:10808 gastric ulcer ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20723003 11669518 EPO erythropoietin gene DOID:114 heart disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16707910 11669518 EPO erythropoietin gene DOID:11713 diabetic angiopathy ISO RGD:735849 D RGD:7240710 20180130 OMIM 11669518 EPO erythropoietin gene DOID:11713 diabetic angiopathy ISO RGD:735849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 2 PMID:18458324 11669518 EPO erythropoietin gene DOID:1184 nephrotic syndrome treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23128049|REF_RGD_ID:11041725 11669518 EPO erythropoietin gene DOID:12241 beta thalassemia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16225658 11669518 EPO erythropoietin gene DOID:12450 pancytopenia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9051142 11669518 EPO erythropoietin gene DOID:12554 hemolytic-uremic syndrome ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12053072 11669518 EPO erythropoietin gene DOID:1289 neurodegenerative disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15816862 11669518 EPO erythropoietin gene DOID:1289 neurodegenerative disease susceptibility ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:16339796|REF_RGD_ID:10400893 11669518 EPO erythropoietin gene DOID:13025 retinopathy of prematurity ISO RGD:2559 D RGD:9068941 20200609 RGD protein:decreased expression:retina: PMID:24630601|REF_RGD_ID:11041658 11669518 EPO erythropoietin gene DOID:13268 porphyria ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus,nephrosclerosis PMID:17435269|REF_RGD_ID:2313839 11669518 EPO erythropoietin gene DOID:1389 polyneuropathy ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17010629 11669518 EPO erythropoietin gene DOID:14330 Parkinson's disease treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:19727138|REF_RGD_ID:10400901 11669518 EPO erythropoietin gene DOID:1561 cognitive disorder ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20833152 11669518 EPO erythropoietin gene DOID:1588 thrombocytopenia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8260696 11669518 EPO erythropoietin gene DOID:1612 breast cancer ISO RGD:735849 D RGD:9068941 20200609 RGD protein:increased expression:breast: PMID:12118093|REF_RGD_ID:11041669 11669518 EPO erythropoietin gene DOID:1657 ventricular septal defect ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19337937 11669518 EPO erythropoietin gene DOID:1686 glaucoma ISO RGD:2559 D RGD:9068941 20200609 RGD protein:increased expression:retina: PMID:17554621|REF_RGD_ID:11041649 11669518 EPO erythropoietin gene DOID:1686 glaucoma ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:17554621|PMID:19741249|REF_RGD_ID:10401071|REF_RGD_ID:11041649 11669518 EPO erythropoietin gene DOID:178 vascular disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25013951 11669518 EPO erythropoietin gene DOID:182 calcinosis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12148126 11669518 EPO erythropoietin gene DOID:1824 status epilepticus ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16679645|PMID:17166730 11669518 EPO erythropoietin gene DOID:1909 melanoma ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15743794 11669518 EPO erythropoietin gene DOID:224 transient cerebral ischemia treatment ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:22282883|REF_RGD_ID:10401060 11669518 EPO erythropoietin gene DOID:224 transient cerebral ischemia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:24702327|REF_RGD_ID:11041699 11669518 EPO erythropoietin gene DOID:2355 anemia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10506726|PMID:10713657|PMID:11245434|PMID:11273875|PMID:11454181|PMID:11569724|PMID:11828949|PMID:11981781|PMID:12670280|PMID:12713065|PMID:12820454|PMID:12897097|PMID:12899718|PMID:14568602|PMID:14706663|PMID:15160343|PMID:1516988|PMID:15232364|PMID:15660393|PMID:1574960|PMID:16434484|PMID:16511603|PMID:16637862|PMID:16707910|PMID:16798232|PMID:16949463|PMID:16970215|PMID:16970600|PMID:17058596|PMID:17168855|PMID:17180133|PMID:17288690|PMID:17397412|PMID:17409018|PMID:17559739|PMID:18265628|PMID:18403296|PMID:18611800|PMID:18695134|PMID:1893952|PMID:19015056|PMID:19212639|PMID:19787831|PMID:1982298|PMID:20189893|PMID:20303990|PMID:21860424|PMID:2186273|PMID:2206997|PMID:22174104|PMID:23077460|PMID:7529132|PMID:7602351|PMID:7631396|PMID:7732690|PMID:8202718|PMID:8250662|PMID:8260696|PMID:8418619|PMID:8504984|PMID:9118049|PMID:9616293|PMID:9617462|PMID:9743294 11669518 EPO erythropoietin gene DOID:2355 anemia ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:15855576|REF_RGD_ID:2313896 11669518 EPO erythropoietin gene DOID:2355 anemia ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies;protein:decreased expression:serum PMID:16681558|REF_RGD_ID:2313843 11669518 EPO erythropoietin gene DOID:3021 acute kidney failure ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21847101|PMID:24561306 11669518 EPO erythropoietin gene DOID:3021 acute kidney failure treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22209169|PMID:22235348|REF_RGD_ID:10400913|REF_RGD_ID:11041660 11669518 EPO erythropoietin gene DOID:3070 high grade glioma ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:21749867|REF_RGD_ID:10400910 11669518 EPO erythropoietin gene DOID:331 central nervous system disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15816862 11669518 EPO erythropoietin gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:735849 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:17368721|REF_RGD_ID:10395391 11669518 EPO erythropoietin gene DOID:3393 coronary artery disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25245553 11669518 EPO erythropoietin gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20547143|PMID:20833153|REF_RGD_ID:10400898|REF_RGD_ID:10401066 11669518 EPO erythropoietin gene DOID:3827 congenital diaphragmatic hernia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27880037 11669518 EPO erythropoietin gene DOID:3891 placental insufficiency treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20809703|REF_RGD_ID:10400897 11669518 EPO erythropoietin gene DOID:4449 macular retinal edema severity ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20664492|REF_RGD_ID:10400883 11669518 EPO erythropoietin gene DOID:4676 uremia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12675867 11669518 EPO erythropoietin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11669518 EPO erythropoietin gene DOID:4947 cholangiocarcinoma ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:23052842|REF_RGD_ID:10400912 11669518 EPO erythropoietin gene DOID:5327 retinal detachment ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:retina: PMID:17882708|REF_RGD_ID:11041648 11669518 EPO erythropoietin gene DOID:5327 retinal detachment treatment ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:22020175|REF_RGD_ID:10401069 11669518 EPO erythropoietin gene DOID:557 kidney disease ISO RGD:735849 D RGD:9068941 20241107 CTD CTD Direct Evidence: therapeutic PMID:20606417|PMID:32909846 11669518 EPO erythropoietin gene DOID:583 hemolytic anemia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10733367|PMID:16629641|PMID:20446436 11669518 EPO erythropoietin gene DOID:5844 myocardial infarction ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19337937 11669518 EPO erythropoietin gene DOID:5844 myocardial infarction treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:21415704|REF_RGD_ID:10400907 11669518 EPO erythropoietin gene DOID:6000 congestive heart failure treatment ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:20139114|REF_RGD_ID:10401073 11669518 EPO erythropoietin gene DOID:627 severe combined immunodeficiency ISO RGD:10531 D RGD:9068941 20200609 RGD Protein: decreased expression:skin PMID:19826948|REF_RGD_ID:2313831 11669518 EPO erythropoietin gene DOID:6432 pulmonary hypertension treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22559233|REF_RGD_ID:10400914 11669518 EPO erythropoietin gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735849 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11669518 EPO erythropoietin gene DOID:783 end stage renal disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16707910 11669518 EPO erythropoietin gene DOID:8466 retinal degeneration treatment ISO RGD:10531 D RGD:9068941 20200609 RGD PMID:21421996|REF_RGD_ID:10400896 11669518 EPO erythropoietin gene DOID:8725 vascular dementia ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:17037738|REF_RGD_ID:10400891 11669518 EPO erythropoietin gene DOID:8947 diabetic retinopathy ISO RGD:735849 D RGD:9068941 20200609 RGD DNA:snp:promoter:-1125T>G(rs1617640)(human) PMID:18458324|REF_RGD_ID:2313838 11669518 EPO erythropoietin gene DOID:8947 diabetic retinopathy ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18235022|REF_RGD_ID:2313890 11669518 EPO erythropoietin gene DOID:8947 diabetic retinopathy ISO RGD:735849 D RGD:9068941 20200609 RGD protein:increased expression:serum,vitreous body PMID:18670462|REF_RGD_ID:2313837 11669518 EPO erythropoietin gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24508793|REF_RGD_ID:10400906 11669518 EPO erythropoietin gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22196867|REF_RGD_ID:10401074 11669518 EPO erythropoietin gene DOID:9000046 Poisoning ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15727166 11669518 EPO erythropoietin gene DOID:9000184 Ventricular Fibrillation ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18156309 11669518 EPO erythropoietin gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23907045|REF_RGD_ID:10400909 11669518 EPO erythropoietin gene DOID:9000656 Penetrating Wounds treatment ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21326299|REF_RGD_ID:10401063 11669518 EPO erythropoietin gene DOID:9000892 Fetal Distress ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain, serum PMID:22099204|REF_RGD_ID:10401064 11669518 EPO erythropoietin gene DOID:9000965 Neoplasm Metastasis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 11669518 EPO erythropoietin gene DOID:9000998 Brain Injuries ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:18093155|REF_RGD_ID:2293059 11669518 EPO erythropoietin gene DOID:9000998 Brain Injuries ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20833152 11669518 EPO erythropoietin gene DOID:9000998 Brain Injuries treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23063952|REF_RGD_ID:10401061 11669518 EPO erythropoietin gene DOID:9001542 Albuminuria ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum PMID:16921186|REF_RGD_ID:2313841 11669518 EPO erythropoietin gene DOID:9001553 Spinal Cord Compression ISO RGD:2559 D RGD:9068941 20200609 RGD protein:increased expression:neuron, endothelium, glia: PMID:15792521|REF_RGD_ID:11041719 11669518 EPO erythropoietin gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20539178|REF_RGD_ID:10401059 11669518 EPO erythropoietin gene DOID:9001981 Weight Loss ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8260696 11669518 EPO erythropoietin gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:25769561|REF_RGD_ID:15090809 11669518 EPO erythropoietin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735849 D RGD:9068941 20200609 RGD DNA:snp:promoter:-1125T>G(rs1617640)(human) PMID:18458324|REF_RGD_ID:2313838 11669518 EPO erythropoietin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735849 D RGD:9068941 20200609 RGD Protein:decreased expression:serum PMID:19619913|REF_RGD_ID:2313832 11669518 EPO erythropoietin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:19356735|REF_RGD_ID:2313833 11669518 EPO erythropoietin gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:25422652|REF_RGD_ID:10400892 11669518 EPO erythropoietin gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18382691 11669518 EPO erythropoietin gene DOID:9002955 Nerve Degeneration ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17010629|PMID:17166730|PMID:19497871|PMID:30837834 11669518 EPO erythropoietin gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:24034924|REF_RGD_ID:10400911 11669518 EPO erythropoietin gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22156696|REF_RGD_ID:10401072 11669518 EPO erythropoietin gene DOID:9003871 Venous Thrombosis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12670338|PMID:17547733 11669518 EPO erythropoietin gene DOID:9004086 AIDS Dementia Complex treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20818790|REF_RGD_ID:10395393 11669518 EPO erythropoietin gene DOID:9004303 Tubulointerstitial Fibrosis treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22678524|REF_RGD_ID:10401065 11669518 EPO erythropoietin gene DOID:9004547 Thyroid Neoplasms ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 11669518 EPO erythropoietin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 11669518 EPO erythropoietin gene DOID:9004702 Pregnancy Complications ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Pregnancy in Diabetes;protein:increased expression:amniotic fluid PMID:15502930|REF_RGD_ID:2313897 11669518 EPO erythropoietin gene DOID:9004713 Acute-Phase Reaction ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple PMID:19840250|REF_RGD_ID:10395370 11669518 EPO erythropoietin gene DOID:9004756 Brain Hypoxia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:21116766|REF_RGD_ID:10400899 11669518 EPO erythropoietin gene DOID:9004756 Brain Hypoxia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:24344874|REF_RGD_ID:10401067 11669518 EPO erythropoietin gene DOID:9005141 Ventricular Tachycardia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18156309 11669518 EPO erythropoietin gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:12118093|REF_RGD_ID:11041669 11669518 EPO erythropoietin gene DOID:9005372 Inflammation ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21497595 11669518 EPO erythropoietin gene DOID:9005474 Experimental Sarcoma ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9743294 11669518 EPO erythropoietin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA:increased expression:Schwann cell: PMID:24673486|REF_RGD_ID:11041670 11669518 EPO erythropoietin gene DOID:9005749 Necrosis treatment ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Ischemia PMID:22924373|REF_RGD_ID:8655615 11669518 EPO erythropoietin gene DOID:9005930 Endotoxemia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23214195|REF_RGD_ID:10400903 11669518 EPO erythropoietin gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:19961832|PMID:25581532|REF_RGD_ID:10401077|REF_RGD_ID:11041698 11669518 EPO erythropoietin gene DOID:9006617 Fatigue ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18695134 11669518 EPO erythropoietin gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:20361946|REF_RGD_ID:10400894 11669518 EPO erythropoietin gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30944280 11669518 EPO erythropoietin gene DOID:9006839 Anastomotic Leak treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22149012|REF_RGD_ID:10400902 11669518 EPO erythropoietin gene DOID:9006924 Cardiogenic Shock ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19337937 11669518 EPO erythropoietin gene DOID:9007090 Experimental Seizures treatment ISO RGD:2559 D RGD:9068941 20241114 RGD PMID:23518641|REF_RGD_ID:10401076 11669518 EPO erythropoietin gene DOID:9007199 Paraneoplastic Syndromes ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10713657 11669518 EPO erythropoietin gene DOID:9007622 Acute Subdural Hematoma treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23415790|REF_RGD_ID:10401075 11669518 EPO erythropoietin gene DOID:9009142 Diamond-Blackfan Anemia-Like ISO RGD:735849 D RGD:7240710 20190315 OMIM 11669518 EPO erythropoietin gene DOID:9009142 Diamond-Blackfan Anemia-Like ISO RGD:735849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia-like PMID:28283061 11669518 EPO erythropoietin gene DOID:9352 type 2 diabetes mellitus ISO RGD:735849 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:16936148|REF_RGD_ID:2313840 11669518 EPO erythropoietin gene DOID:9352 type 2 diabetes mellitus ISO RGD:735849 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16911620|REF_RGD_ID:2313842 11669518 EPO erythropoietin gene DOID:9477 pulmonary embolism ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12670338 11669518 EPO erythropoietin gene DOID:9743 diabetic neuropathy ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:19244253|REF_RGD_ID:2313834 11669518 EPO erythropoietin gene DOID:9993 hypoglycemia ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma PMID:19211168|REF_RGD_ID:2313835 11669527 LOC100982221 olfactory receptor 10X1 gene DOID:1540 parathyroid carcinoma ISO RGD:1342523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11669527 LOC100982221 olfactory receptor 10X1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11669530 FBXO42 F-box protein 42 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312431 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11669544 CBLB Cbl proto-oncogene B gene DOID:2377 multiple sclerosis ISO RGD:733798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453840 11669544 CBLB Cbl proto-oncogene B gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:733798 D RGD:9068941 20220107 RGD PMID:29384143|REF_RGD_ID:150540336 11669544 CBLB Cbl proto-oncogene B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:733798 D RGD:9068941 20210521 RGD DNA:SNPs: :rs2305035, rs9657904 (human) PMID:29707316|REF_RGD_ID:126925239 11669544 CBLB Cbl proto-oncogene B gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:733798 D RGD:9068941 20210521 RGD DNA:SNPs: :rs3772534 (human) PMID:29707316|REF_RGD_ID:126925239 11669544 CBLB Cbl proto-oncogene B gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:733798 D RGD:9068941 20220107 RGD DNA:SNP,haplotype: :rs2305035(human) PMID:26732495|REF_RGD_ID:150540334 11669544 CBLB Cbl proto-oncogene B gene DOID:5517 stomach carcinoma disease_progression ISO RGD:733798 D RGD:9068941 20220107 RGD PMID:28334634|REF_RGD_ID:150540337 11669544 CBLB Cbl proto-oncogene B gene DOID:5517 stomach carcinoma severity ISO RGD:733798 D RGD:9068941 20220107 RGD PMID:20038312|REF_RGD_ID:150540338 11669544 CBLB Cbl proto-oncogene B gene DOID:9000081 Lymphatic Metastasis ISO RGD:733798 D RGD:9068941 20220107 RGD associated with stomach carcinoma; PMID:20038312|REF_RGD_ID:150540338 11669544 CBLB Cbl proto-oncogene B gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:620535 D RGD:9068941 20210521 RGD mRNA:increased expression:spinal cord PMID:30021515|REF_RGD_ID:126925240 11669544 CBLB Cbl proto-oncogene B gene DOID:9002457 Experimental Arthritis ISO RGD:620535 D RGD:9068941 20200609 RGD PMID:16984225|REF_RGD_ID:2306289 11669544 CBLB Cbl proto-oncogene B gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:733798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453840 11669544 CBLB Cbl proto-oncogene B gene DOID:9003588 Multisystem Autoimmune Disease, Infantile-Onset, 3 ISO RGD:733798 D RGD:7240710 20230712 OMIM 11669544 CBLB Cbl proto-oncogene B gene DOID:9003588 Multisystem Autoimmune Disease, Infantile-Onset, 3 ISO RGD:733798 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Autoimmune disease, multisystem, infantile-onset, 3 | ClinVar Annotator: match by term: CBLB-related condition PMID:24728327|PMID:25741868|PMID:28492532|PMID:36006710 11669544 CBLB Cbl proto-oncogene B gene DOID:9007692 Insulin Resistance ISO RGD:733799 D RGD:9068941 20200609 RGD PMID:17601987|REF_RGD_ID:2314038 11669544 CBLB Cbl proto-oncogene B gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:733798 D RGD:9068941 20220107 RGD associated with lung non-small cell carcinoma; DNA:SNP,haplotype: :rs2305035(human) PMID:26732495|REF_RGD_ID:150540334 11669544 CBLB Cbl proto-oncogene B gene DOID:9009121 lung metastasis severity ISO RGD:733798 D RGD:9068941 20220107 RGD associated with stomach carcinoma; PMID:28334634|REF_RGD_ID:150540337 11669544 CBLB Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus ISO RGD:620535 D RGD:9068941 20200609 RGD PMID:12118252|REF_RGD_ID:625457 11669544 CBLB Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus ISO RGD:733798 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs3772534 (human) PMID:15629882|REF_RGD_ID:2314040 11669544 CBLB Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus ISO RGD:733798 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple (human) PMID:18201552|REF_RGD_ID:2314037 11669544 CBLB Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:733798 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs3772534 (human) PMID:17209142|REF_RGD_ID:2314039 11669544 CBLB Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:733798 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:14961073|REF_RGD_ID:2314041 11669544 CBLB Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:620535 D RGD:9068941 20200609 RGD DNA:nonsense mutation (rat) PMID:12118252|REF_RGD_ID:625457 11669583 ZNRD2 zinc ribbon domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1323499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11669583 ZNRD2 zinc ribbon domain containing 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11669583 ZNRD2 zinc ribbon domain containing 2 gene DOID:2746 glycogen storage disease V ISO RGD:1323499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 11669583 ZNRD2 zinc ribbon domain containing 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323499 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 11669583 ZNRD2 zinc ribbon domain containing 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 11669591 CMTM1 CKLF like MARVEL transmembrane domain containing 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316732 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11669591 CMTM1 CKLF like MARVEL transmembrane domain containing 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:1316732 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11669591 CMTM1 CKLF like MARVEL transmembrane domain containing 1 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1316732 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 11669599 FOXK2 forkhead box K2 gene DOID:12336 male infertility ISO RGD:1313423 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32522586 11669599 FOXK2 forkhead box K2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1313423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:28492532 11669599 FOXK2 forkhead box K2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1313423 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 11669610 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 11669610 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 11669610 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 11669610 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 11669610 CDK5R2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0050557 congenital muscular dystrophy ISO RGD:3160581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29260090|PMID:29382405 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0050560 Walker-Warburg syndrome ISO RGD:3160581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22522420|PMID:22522421 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0080000 muscular disease ISO RGD:3160581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22522421 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U ISO RGD:3160581 D RGD:7240710 20180808 OMIM 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U ISO RGD:3160581 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2U | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2U PMID:22522420|PMID:22522421|PMID:23217329|PMID:23288328|PMID:23390185|PMID:25326635|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28973083|PMID:29382405|PMID:31909476 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ISO RGD:3160581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency PMID:25741868 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:3160581 D RGD:7240710 20180130 OMIM 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:3160581 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 PMID:10738921|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22522420|PMID:22522421|PMID:23217329|PMID:2328832|PMID:23288328|PMID:23390185|PMID:24033266|PMID:24120487|PMID:2522420|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26404900|PMID:26467025|PMID:27234031|PMID:27363342|PMID:28492532|PMID:28688748|PMID:28973083|PMID:29260090|PMID:29382405|PMID:30564623|PMID:31127727|PMID:31395954|PMID:31909476|PMID:32502767|PMID:33199158|PMID:34485198|PMID:7604843|PMID:9492098|PMID:9536098 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:3160581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:22522420|PMID:2522420|PMID:25741868|PMID:28492532 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:10908 hydrocephalus ISO RGD:3160581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22522421 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:3160581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11669627 CRPPA CDP-L-ribitol pyrophosphorylase A gene DOID:9008296 Eye Abnormalities ISO RGD:3160581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22522421 11669647 SLAMF6 SLAM family member 6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1345807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11669647 SLAMF6 SLAM family member 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1345807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11669647 SLAMF6 SLAM family member 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11669666 LOC100992635 olfactory receptor 4C3 gene DOID:1059 intellectual disability ISO RGD:1342934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11669679 DRD5 dopamine receptor D5 gene DOID:0050840 cervical dystonia ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11459908 11669679 DRD5 dopamine receptor D5 gene DOID:0060040 pervasive developmental disorder ISO RGD:731837 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood PMID:21906006|REF_RGD_ID:5686422 11669679 DRD5 dopamine receptor D5 gene DOID:10652 Alzheimer's disease ISO RGD:731837 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex, neuron PMID:17182012|REF_RGD_ID:5686412 11669679 DRD5 dopamine receptor D5 gene DOID:10763 hypertension ISO RGD:10489 D RGD:9068941 20200609 RGD PMID:12486173|REF_RGD_ID:1580887 11669679 DRD5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731837 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: DRD5-related condition | ClinVar Annotator: match by term: HYPERACTIVITY OF CHILDHOOD PMID:10208453|PMID:14732906|PMID:18081165|PMID:25741868|PMID:27480019 11669679 DRD5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:731837 D RGD:9068941 20200609 RGD PMID:15389755|REF_RGD_ID:5686411 11669679 DRD5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:731837 D RGD:7240710 20241211 OMIM 11669679 DRD5 dopamine receptor D5 gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:12111832|REF_RGD_ID:5686414 11669679 DRD5 dopamine receptor D5 gene DOID:14330 Parkinson's disease ISO RGD:731837 D RGD:9068941 20200609 RGD protein:increased expression:blood, lymphocyte PMID:10495037|REF_RGD_ID:5686418 11669679 DRD5 dopamine receptor D5 gene DOID:1596 depressive disorder ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11669679 DRD5 dopamine receptor D5 gene DOID:2468 psychotic disorder ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11669679 DRD5 dopamine receptor D5 gene DOID:3312 bipolar disorder ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 11669679 DRD5 dopamine receptor D5 gene DOID:529 blepharospasm ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11781417 11669679 DRD5 dopamine receptor D5 gene DOID:529 blepharospasm ISO RGD:731837 D RGD:9068941 20200609 RGD DNA:repeat PMID:11781417|REF_RGD_ID:734899 11669679 DRD5 dopamine receptor D5 gene DOID:5419 schizophrenia ISO RGD:731837 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:27250208|PMID:29255361 11669679 DRD5 dopamine receptor D5 gene DOID:9002584 Benign Essential Blepharospasm ISO RGD:731837 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: DRD5-related condition PMID:25741868 11669679 DRD5 dopamine receptor D5 gene DOID:9002584 Benign Essential Blepharospasm susceptibility ISO RGD:731837 D RGD:7240710 20241211 OMIM 11669701 PSG4 pregnancy specific beta-1-glycoprotein 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1348613 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11669701 PSG4 pregnancy specific beta-1-glycoprotein 4 gene DOID:5419 schizophrenia ISO RGD:1348613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11669730 MORN2 MORN repeat containing 2 gene DOID:0080690 RASopathy ISO RGD:2303892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11669730 MORN2 MORN repeat containing 2 gene DOID:3883 Lynch syndrome ISO RGD:2303892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11669730 MORN2 MORN repeat containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2303892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11669749 TNRC18 trinucleotide repeat containing 18 gene DOID:0081112 Baraitser-Winter syndrome 1 ISO RGD:2291816 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 PMID:27633570|PMID:28128450|PMID:28492532|PMID:31898838 11669749 TNRC18 trinucleotide repeat containing 18 gene DOID:11372 megacolon ISO RGD:2291816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11669781 TEAD2 TEA domain transcription factor 2 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1344942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 11669781 TEAD2 TEA domain transcription factor 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1344942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11669798 SH3RF3 SH3 domain containing ring finger 3 gene DOID:670 amphetamine abuse ISO RGD:1344960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 11669810 CHMP7 charged multivesicular body protein 7 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1602310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1354110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1354110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0080690 RASopathy ISO RGD:1354110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1354110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1354110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1354110 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:3070 high grade glioma ISO RGD:1354110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578367 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:9002173 osteogenesis imperfecta type 23 ISO RGD:1354110 D RGD:7240710 20240214 OMIM 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:9002173 osteogenesis imperfecta type 23 ISO RGD:1354110 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 23 PMID:36543534 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:9004100 Familial Atrial Fibrillation 14 ISO RGD:1354110 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 PMID:28492532 11669837 PHLDB1 pleckstrin homology like domain family B member 1 gene DOID:9007661 Dwarfism ISO RGD:1354110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11669924 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1315512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 11669924 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1315512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:25087610 11669924 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1315512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11669924 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1315512 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11669924 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:0110980 Joubert syndrome 1 ISO RGD:1315512 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 11669924 TOM1L2 target of myb1 like 2 membrane trafficking protein gene DOID:12849 autistic disorder ISO RGD:1315512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11669954 NCAM2 neural cell adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1342930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 11669954 NCAM2 neural cell adhesion molecule 2 gene DOID:13938 amenorrhea ISO RGD:1342930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11669954 NCAM2 neural cell adhesion molecule 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11669981 SYT7 synaptotagmin 7 gene DOID:0050773 paraganglioma ISO RGD:736086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 11669981 SYT7 synaptotagmin 7 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11669981 SYT7 synaptotagmin 7 gene DOID:1059 intellectual disability ISO RGD:736086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11669981 SYT7 synaptotagmin 7 gene DOID:2661 myoepithelioma ISO RGD:736086 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11669981 SYT7 synaptotagmin 7 gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:736086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1323005 D RGD:9068941 20221020 RGD mRNA:decreased expression:colorectum (human) PMID:22966016|REF_RGD_ID:155598682 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0060058 lymphoma susceptibility ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:11238917|REF_RGD_ID:11567233 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0060240 UV-sensitive syndrome ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26972010 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080199 colorectal carcinoma treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD human cell line in a mouse model PMID:28665687|REF_RGD_ID:155260341 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080868 primary ovarian insufficiency 11 ISO RGD:1323005 D RGD:7240710 20250108 OMIM 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080868 primary ovarian insufficiency 11 ISO RGD:1323005 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 11 PMID:10196384|PMID:10767341|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26218421|PMID:27004399|PMID:27186691|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:38177409|PMID:9443879 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1323005 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868|PMID:28492532 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080907 Cockayne syndrome A ISO RGD:1323005 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cockayne syndrome type I PMID:18628313|PMID:25741868|PMID:27004399|PMID:28492532|PMID:29572252 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080908 Cockayne syndrome B ISO RGD:1323005 D RGD:7240710 20250108 OMIM 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080908 Cockayne syndrome B ISO RGD:1323005 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cockayne Syndrome, Type II | ClinVar Annotator: match by term: Cockayne syndrome B PMID:10196384|PMID:10447254|PMID:10767341|PMID:11809892|PMID:1339317|PMID:15486090|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18446857|PMID:18628313|PMID:18784753|PMID:19894250|PMID:20122405|PMID:20456449|PMID:21143350|PMID:21228398|PMID:22466610|PMID:22483866|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:23428416|PMID:24033266|PMID:24154677|PMID:25026993|PMID:25136123|PMID:25251875|PMID:25326635|PMID:25356239|PMID:25741868|PMID:25820262|PMID:26206375|PMID:26749132|PMID:27004399|PMID:27356891|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:29944916|PMID:29955172|PMID:30111349|PMID:30842647|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:32860008|PMID:34052969|PMID:35135151|PMID:36099812|PMID:38177409|PMID:7063265|PMID:7264357|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098|PMID:9777763 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080910 cerebrooculofacioskeletal syndrome ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COFS syndrome | ClinVar Annotator: match by term: Cerebrooculofacioskeletal Syndrome PMID:18414213|PMID:25741868|PMID:28492532 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 ISO RGD:1323005 D RGD:7240710 20250108 OMIM 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 ISO RGD:1323005 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 | ClinVar Annotator: match by term: PENA-SHOKEIR SYNDROME, TYPE II PMID:10196384|PMID:10739753|PMID:10767341|PMID:11809892|PMID:1339317|PMID:17576681|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:20122405|PMID:20456449|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:23428416|PMID:24033266|PMID:24154677|PMID:25026993|PMID:25136123|PMID:25326635|PMID:25356239|PMID:25741868|PMID:25820262|PMID:26206375|PMID:27004399|PMID:27356891|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:30111349|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:35135151|PMID:36099812|PMID:38177409|PMID:7063265|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0110028 age related macular degeneration 5 ISO RGD:1323005 D RGD:7240710 20250108 OMIM 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0110028 age related macular degeneration 5 ISO RGD:1323005 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 5 PMID:10196384|PMID:10767341|PMID:16754848|PMID:17576681|PMID:17854076|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:24154677|PMID:25026993|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:35135151|PMID:36099812|PMID:38177409|PMID:9443879|PMID:9536098 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0112158 De Sanctis-Cacchione syndrome ISO RGD:1323005 D RGD:7240710 20250108 OMIM 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0112158 De Sanctis-Cacchione syndrome ISO RGD:1323005 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:10196384|PMID:10767341|PMID:11809892|PMID:1339317|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:20122405|PMID:20456449|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:23428416|PMID:24033266|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25356239|PMID:25463447|PMID:25741868|PMID:25820262|PMID:26206375|PMID:26218421|PMID:26620705|PMID:27004399|PMID:27186691|PMID:27356891|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:30111349|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:33904453|PMID:34005834|PMID:34052969|PMID:34853308|PMID:38177409|PMID:7063265|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10003 sensorineural hearing loss ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:25762674|REF_RGD_ID:11567237 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10534 stomach cancer exacerbates ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:SNP:enhancer: (rs1917799) (human) PMID:27340861|REF_RGD_ID:155260339 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10534 stomach cancer exacerbates ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA:increased expression:stomach (human) PMID:30417012|REF_RGD_ID:155260342 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10629 microphthalmia ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10739753 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10907 microcephaly ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10739753|PMID:18628313 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:11372 megacolon ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer ISO RGD:1323005 D RGD:7240710 20250108 OMIM 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer ISO RGD:1323005 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: LUNG CANCER, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:10767341|PMID:16754848|PMID:17854076|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:38177409|PMID:9443879 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer disease_progression ISO RGD:1323005 D RGD:9068941 20200609 RGD DNA:SNPs: :p.G399D, p.Q1413R (human) PMID:17855454|REF_RGD_ID:11567235 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer no_association ISO RGD:1323005 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:18789574|REF_RGD_ID:11567231 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer susceptibility ISO RGD:1323005 D RGD:9068941 20250109 RGD DNA:point mutation:promoter::c.-6530C>G (rs3793784) (human) PMID:17854076|REF_RGD_ID:11561791 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer susceptibility ISO RGD:1323005 D RGD:9068941 20250109 RGD mRNA:decreased expression:lung (human) PMID:10910954|REF_RGD_ID:155260338 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:14184 polyneuropathy due to drug treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD associated with colorectal cancer;DNA:missense mutations:CDS:p.D425A, p.G446D, p.S797C (rs4253046, rs4253047, rs146043988) (human) PMID:35135151|REF_RGD_ID:155260345 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:14261 fragile X syndrome ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:24352881|REF_RGD_ID:10401097 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1749 squamous cell carcinoma severity ISO RGD:1622854 D RGD:9068941 20200609 RGD associated with Cockayne Syndrome PMID:9150142|REF_RGD_ID:10401099 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:224 transient cerebral ischemia ISO RGD:1311509 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:10437118|REF_RGD_ID:10401104 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:2596 larynx cancer susceptibility ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:missense mutation:CDS:p.R1230P (human) PMID:19444904|REF_RGD_ID:155260337 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:2962 Cockayne syndrome ISO RGD:1323005 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism PMID:15486090|PMID:16199547|PMID:18414213|PMID:18628313|PMID:19894250|PMID:20122405|PMID:21143350|PMID:21228398|PMID:22466610|PMID:22483866|PMID:25326635|PMID:25356239|PMID:25741868|PMID:25820262|PMID:26206375|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:29955172|PMID:30111349|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:34052969|PMID:7264357|PMID:9443879|PMID:9777763 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3355 fibrosarcoma susceptibility ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:11238917|REF_RGD_ID:11567233 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3525 middle cerebral artery infarction ISO RGD:1311509 D RGD:9068941 20200609 RGD PMID:9974119|REF_RGD_ID:10401103 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3905 lung carcinoma ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:10196384|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:23311583|PMID:24154677|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3907 lung squamous cell carcinoma ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA, protein:increased expression:lung (human) PMID:31615563|REF_RGD_ID:155260344 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:SNP:intron: (rs4253002) (human) PMID:28924235|REF_RGD_ID:153323316 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3910 lung adenocarcinoma ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA, protein:increased expression:lung (human) PMID:31615563|REF_RGD_ID:155260344 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:4448 macular degeneration ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy PMID:18414213|PMID:25741868|PMID:28492532 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:4448 macular degeneration onset ISO RGD:1323005 D RGD:9068941 20200609 RGD PMID:21072178|REF_RGD_ID:10401096 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:5419 schizophrenia ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:630 genetic disease ISO RGD:1323005 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:18628313|PMID:19894250|PMID:20456449|PMID:21228398|PMID:23311583|PMID:23428416|PMID:25251875|PMID:25326635|PMID:25356239|PMID:25741868|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:7063265|PMID:9443879 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1323005 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25677497|PMID:25741868|PMID:27356891|PMID:28492532|PMID:29572252 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:83 cataract ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9002644 Premature Aging ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25440059 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human) PMID:28924235|REF_RGD_ID:153323316 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9004538 Hearing Loss ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25440059 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9005172 Lung Neoplasms ISO RGD:1323005 D RGD:9068941 20240125 CTD CTD Direct Evidence: marker/mechanism PMID:17854076 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1323005 D RGD:9068941 20240118 RGD DNA:SNPs: :rs3793784, rs12571445 (human) PMID:18789574|REF_RGD_ID:11567231 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006257 Growth Disorders ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006274 UV-Sensitive Syndrome 1 ISO RGD:1323005 D RGD:7240710 20250108 OMIM 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006274 UV-Sensitive Syndrome 1 ISO RGD:1323005 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: UV-SENSITIVE SYNDROME 1 | ClinVar Annotator: match by term: UV-sensitive syndrome 1 PMID:10196384|PMID:10767341|PMID:15486090|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22466610|PMID:22483866|PMID:22661500|PMID:22904069|PMID:23311583|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:29915382|PMID:30111349|PMID:38177409|PMID:7264357|PMID:9443879|PMID:9777763 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9008514 Psychomotor Disorders ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9256 colorectal cancer ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:SNP:exon: (rs2228526) (human) PMID:29151331|REF_RGD_ID:155260348 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9256 colorectal cancer ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA:increased expression:colorectum (human) PMID:16951227|REF_RGD_ID:155260343 11670021 ERCC6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9256 colorectal cancer susceptibility ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:missense mutation:CDS:p.R1213G (human) PMID:17119055|REF_RGD_ID:155260340 11670022 TNFSF13 TNF superfamily member 13 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1314162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11670022 TNFSF13 TNF superfamily member 13 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1314162 D RGD:9068941 20200609 RGD PMID:15488762|REF_RGD_ID:1549466 11670022 TNFSF13 TNF superfamily member 13 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1314162 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11670022 TNFSF13 TNF superfamily member 13 gene DOID:12177 common variable immunodeficiency ISO RGD:1314162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 11670022 TNFSF13 TNF superfamily member 13 gene DOID:2729 dyskeratosis congenita ISO RGD:1314162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11670022 TNFSF13 TNF superfamily member 13 gene DOID:2986 IgA glomerulonephritis ISO RGD:1314162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197929 11670022 TNFSF13 TNF superfamily member 13 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1314162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 11670022 TNFSF13 TNF superfamily member 13 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1314162 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15488762|REF_RGD_ID:1549466 11670022 TNFSF13 TNF superfamily member 13 gene DOID:9003281 Spontaneous Abortions ISO RGD:1314162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11670022 TNFSF13 TNF superfamily member 13 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1314162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18423122 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:0060074 ductal carcinoma in situ ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:1824 status epilepticus ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:14614901|REF_RGD_ID:1625688 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:730833 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:1936 atherosclerosis ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330073 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:3008 invasive ductal carcinoma ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:409 liver disease ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:4947 cholangiocarcinoma severity ISO RGD:730833 D RGD:9068941 20220128 RGD protein:decreased expression:bile duct (human) PMID:26485275|REF_RGD_ID:11250478 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterine cervix PMID:16878360|REF_RGD_ID:2298904 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:684 hepatocellular carcinoma ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16831601 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730833 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18097573|REF_RGD_ID:2298901 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9000099 Experimental Colitis treatment ISO RGD:621087 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9000784 Fibrosis ISO RGD:621087 D RGD:9068941 20200609 RGD PMID:16012948|REF_RGD_ID:1625686 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9002457 Experimental Arthritis ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell PMID:16507131|REF_RGD_ID:1625684 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9004009 Reperfusion Injury ISO RGD:621087 D RGD:9068941 20200609 RGD associated with Brain Ischemia;mRNA, protein:increased expression:cerebral cortex PMID:12437578|REF_RGD_ID:632385 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9004484 Sepsis ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11312157|REF_RGD_ID:634751 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9004484 Sepsis ISO RGD:621087 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius PMID:12644450|REF_RGD_ID:2298924 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730834 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18381452|REF_RGD_ID:2298899 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:18356406|REF_RGD_ID:2298911 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:730834 D RGD:9068941 20200609 RGD PMID:17562326|REF_RGD_ID:2313787 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9005930 Endotoxemia ISO RGD:621087 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9005930 Endotoxemia ISO RGD:730834 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, skeletal muscle PMID:15169905|REF_RGD_ID:2298923 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:730834 D RGD:9068941 20200609 RGD associated with Obesity PMID:15240880|REF_RGD_ID:1625677 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9007692 Insulin Resistance ISO RGD:730834 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:15240880|REF_RGD_ID:1625677 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:730834 D RGD:9068941 20200609 RGD associated with Obesity PMID:17295835|REF_RGD_ID:2313789 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16804899 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9007730 Burns ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hepatocyte PMID:12392283|REF_RGD_ID:730264 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9008114 Helicobacter Infections ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression PMID:17405912|REF_RGD_ID:1625683 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:15331532|REF_RGD_ID:2313790 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730834 D RGD:9068941 20200609 RGD PMID:17513737|REF_RGD_ID:2313788 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:621087 D RGD:9068941 20200609 RGD PMID:29110587|REF_RGD_ID:13506806 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9452 steatotic liver disease ISO RGD:730834 D RGD:9068941 20200609 RGD associated with Obesity PMID:15240880|REF_RGD_ID:1625677 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9970 obesity ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:white fat PMID:11027633|REF_RGD_ID:2298920 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9970 obesity ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:altered expression:skeletal muscle, subcutaneous adipose tissue PMID:15331532|REF_RGD_ID:2313790 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9970 obesity ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:decreased expression:subcutaneous adipose tissue PMID:16920065|REF_RGD_ID:1625676 11670046 SOCS3 suppressor of cytokine signaling 3 gene DOID:9970 obesity ISO RGD:730833 D RGD:9068941 20240502 RGD DNA:SNP:utr (rs4969170) (human) PMID:23900445|REF_RGD_ID:405650675 11670052 ZNF597 zinc finger protein 597 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11670052 ZNF597 zinc finger protein 597 gene DOID:1826 epilepsy ISO RGD:1351139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11670052 ZNF597 zinc finger protein 597 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351139 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11670052 ZNF597 zinc finger protein 597 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1351139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11670131 RPL22L1 ribosomal protein L22 like 1 gene DOID:0070562 Fanconi-Bickel syndrome ISO RGD:1602286 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0050451 Brugada syndrome ISO RGD:68576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0050970 spinocerebellar ataxia type 19/22 ISO RGD:68576 D RGD:7240710 20180130 OMIM 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0050970 spinocerebellar ataxia type 19/22 ISO RGD:68576 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 PMID:11284128|PMID:17576681|PMID:17581856|PMID:21349352|PMID:21640846|PMID:21703448|PMID:22284586|PMID:22336521|PMID:22402074|PMID:22457051|PMID:22584458|PMID:22840528|PMID:23280837|PMID:23280838|PMID:23400760|PMID:23414114|PMID:23834499|PMID:23838598|PMID:24762397|PMID:25175087|PMID:25214526|PMID:25401298|PMID:25410959|PMID:25741868|PMID:25741869|PMID:26016905|PMID:26076356|PMID:26189493|PMID:26220970|PMID:26467025|PMID:26633542|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28362824|PMID:28444220|PMID:28492532|PMID:28895081|PMID:29053796|PMID:29062094|PMID:29482223|PMID:29527639|PMID:29953624|PMID:30662450|PMID:30776697|PMID:30847666|PMID:31017293|PMID:31130284|PMID:31195250|PMID:31293010|PMID:31695177|PMID:31737537|PMID:32709127|PMID:32818936|PMID:32921676|PMID:34085946|PMID:34087979|PMID:34361012|PMID:35932045|PMID:38180701|PMID:9536098 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0060224 atrial fibrillation ISO RGD:68576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28416822|PMID:29892015|PMID:30061737 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0110226 Brugada syndrome 9 ISO RGD:68576 D RGD:7240710 20180130 OMIM 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0110226 Brugada syndrome 9 ISO RGD:68576 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Brugada syndrome 9 PMID:21349352|PMID:21640846|PMID:21703448|PMID:22284586|PMID:22336521|PMID:22457051|PMID:22840528|PMID:23400760|PMID:23414114|PMID:24762397|PMID:25214526|PMID:25741868|PMID:26016905|PMID:26076356|PMID:26467025|PMID:28074886|PMID:28492532|PMID:29053796|PMID:30662450|PMID:30776697|PMID:31017293|PMID:31130284|PMID:31737537|PMID:32709127|PMID:32818936|PMID:32921676|PMID:35932045 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:68576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:68576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:1826 epilepsy ISO RGD:68576 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:630 genetic disease ISO RGD:68576 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670143 KCND3 potassium voltage-gated channel subfamily D member 3 gene DOID:9003936 Cardiomegaly ISO RGD:68577 D RGD:9068941 20200609 RGD protein:decreased expression:heart: PMID:23747723|REF_RGD_ID:8847123 11670160 GFOD1 Gfo/Idh/MocA-like oxidoreductase domain containing 1 gene DOID:3393 coronary artery disease ISO RGD:1323002 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 11670174 NDP norrin cystine knot growth factor NDP gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1558298 D RGD:9068941 20220825 MouseDO OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310 11670174 NDP norrin cystine knot growth factor NDP gene DOID:0060282 persistent hyperplastic primary vitreous ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous PMID:25741868 11670174 NDP norrin cystine knot growth factor NDP gene DOID:0060693 Brunner syndrome ISO RGD:1343189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brunner syndrome PMID:17296899|PMID:20340138|PMID:22382802|PMID:28492532|PMID:30452590|PMID:8211186 11670174 NDP norrin cystine knot growth factor NDP gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11670174 NDP norrin cystine knot growth factor NDP gene DOID:0060844 Norrie disease ISO RGD:1343189 D RGD:7240710 20180130 OMIM 11670174 NDP norrin cystine knot growth factor NDP gene DOID:0060844 Norrie disease ISO RGD:1343189 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Atrophia bulborum hereditaria PMID:10484772|PMID:10773814|PMID:11337749|PMID:11748312|PMID:1303235|PMID:1303264|PMID:1307245|PMID:14635119|PMID:15776010|PMID:16970763|PMID:17050281|PMID:17296899|PMID:17334993|PMID:20340138|PMID:20385941|PMID:20491809|PMID:22563645|PMID:22786811|PMID:23141577|PMID:25711638|PMID:25741868|PMID:26158506|PMID:26547627|PMID:28492532|PMID:30097784|PMID:30311386|PMID:30452590|PMID:31030433|PMID:31456290|PMID:33781268|PMID:34582765|PMID:34860240|PMID:35328049|PMID:7558002|PMID:7627181|PMID:7795608|PMID:7814011|PMID:8069314|PMID:8240113|PMID:8268931|PMID:8535448|PMID:8790105|PMID:8832723|PMID:8990009|PMID:9143917|PMID:9143918|PMID:9382152|PMID:9618247 11670174 NDP norrin cystine knot growth factor NDP gene DOID:0111413 X-linked exudative vitreoretinopathy 2 ISO RGD:1343189 D RGD:7240710 20180214 OMIM 11670174 NDP norrin cystine knot growth factor NDP gene DOID:0111413 X-linked exudative vitreoretinopathy 2 ISO RGD:1343189 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 2, X-linked | ClinVar Annotator: match by term: Exudative vitreoretinopathy, X-linked PMID:11337749|PMID:1307245|PMID:17050281|PMID:17296899|PMID:20491809|PMID:25741868|PMID:26158506|PMID:28492532|PMID:35328049|PMID:7558002|PMID:7795608|PMID:8252044|PMID:8457509|PMID:8535448|PMID:8832723|PMID:8946107|PMID:9143917|PMID:9382152|PMID:95062|PMID:9618247 11670174 NDP norrin cystine knot growth factor NDP gene DOID:12849 autistic disorder ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11670174 NDP norrin cystine knot growth factor NDP gene DOID:13025 retinopathy of prematurity severity ISO RGD:1343189 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.R121W, p.L108P (human) PMID:9152134|REF_RGD_ID:8694210 11670174 NDP norrin cystine knot growth factor NDP gene DOID:3612 retinitis ISO RGD:1343189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29654250 11670174 NDP norrin cystine knot growth factor NDP gene DOID:4449 macular retinal edema ISO RGD:1343189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29654250 11670174 NDP norrin cystine knot growth factor NDP gene DOID:5327 retinal detachment ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal detachment PMID:25741868 11670174 NDP norrin cystine knot growth factor NDP gene DOID:630 genetic disease ISO RGD:1343189 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20340138|PMID:25741868|PMID:28492532 11670174 NDP norrin cystine knot growth factor NDP gene DOID:7765 Coats disease ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:26908610 11670174 NDP norrin cystine knot growth factor NDP gene DOID:8501 fundus dystrophy ISO RGD:1343189 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11385715|PMID:1307245|PMID:14635119|PMID:17296899|PMID:17431911|PMID:17955262|PMID:18817988|PMID:20340138|PMID:20491809|PMID:20676997|PMID:22382802|PMID:22786811|PMID:25711638|PMID:25741868|PMID:26158506|PMID:26311697|PMID:27720678|PMID:28492532|PMID:28602015|PMID:28742514|PMID:28758032|PMID:29321361|PMID:30452590|PMID:30474316|PMID:32141364|PMID:32341821|PMID:33781268|PMID:34189345|PMID:3486024|PMID:34860240|PMID:35656167|PMID:3646071|PMID:7558002|PMID:7627181|PMID:7795608|PMID:8281159|PMID:8314592|PMID:8535448|PMID:8807344|PMID:8832723|PMID:9143917|PMID:9143918 11670174 NDP norrin cystine knot growth factor NDP gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1343189 D RGD:9068941 20200609 RGD Norrie Disease, OMIM:310600, DNA:point mutations:exon PMID:1303235|REF_RGD_ID:1600222 11670174 NDP norrin cystine knot growth factor NDP gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1558298 D RGD:9068941 20200609 RGD PMID:20053900|REF_RGD_ID:8694208 11670174 NDP norrin cystine knot growth factor NDP gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11670174 NDP norrin cystine knot growth factor NDP gene DOID:9004538 Hearing Loss ISO RGD:1343189 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:14635119|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31456290|PMID:34582765 11670174 NDP norrin cystine knot growth factor NDP gene DOID:9007748 Retinal Neovascularization ISO RGD:1343189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29654250 11670174 NDP norrin cystine knot growth factor NDP gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1343189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 11670181 SNCA synuclein alpha gene DOID:0050890 synucleinopathy ISO RGD:733186 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34332006 11670181 SNCA synuclein alpha gene DOID:0060367 Parkinson's disease 1 ISO RGD:733186 D RGD:7240710 20180130 OMIM 11670181 SNCA synuclein alpha gene DOID:0060367 Parkinson's disease 1 ISO RGD:733186 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1 PMID:10417297|PMID:10482268|PMID:11261505|PMID:11376188|PMID:12062037|PMID:14593171|PMID:14755720|PMID:15144854|PMID:15451224|PMID:15451225|PMID:16358335|PMID:17251522|PMID:17489854|PMID:17625105|PMID:18195271|PMID:18704525|PMID:18852445|PMID:18852448|PMID:18852449|PMID:19632874|PMID:20340137|PMID:20437567|PMID:21252228|PMID:21559878|PMID:23404372|PMID:23427326|PMID:23457019|PMID:23526723|PMID:23669636|PMID:24047453|PMID:24158904|PMID:24158909|PMID:24313877|PMID:24315198|PMID:24728187|PMID:24746362|PMID:24936070|PMID:24984882|PMID:25268550|PMID:25393002|PMID:25505181|PMID:25741868|PMID:25892596|PMID:26076669|PMID:26306801|PMID:26341711|PMID:26799529|PMID:26858591|PMID:27066564|PMID:27393118|PMID:27573854|PMID:28012952|PMID:28416701|PMID:28492532|PMID:28666710|PMID:29233723|PMID:29398121|PMID:30423204|PMID:30528390|PMID:31267130|PMID:31980526|PMID:31996268|PMID:33617693|PMID:9197268|PMID:9462735|PMID:9499430|PMID:9506559|PMID:9827625 11670181 SNCA synuclein alpha gene DOID:0060895 Parkinson's disease 4 ISO RGD:733186 D RGD:7240710 20180130 OMIM 11670181 SNCA synuclein alpha gene DOID:0060895 Parkinson's disease 4 ISO RGD:733186 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 4 PMID:10417297|PMID:10482268|PMID:11261505|PMID:11376188|PMID:12062037|PMID:15144854|PMID:17489854|PMID:18704525|PMID:19632874|PMID:20340137|PMID:21252228|PMID:21559878|PMID:24313877|PMID:24746362|PMID:25268550|PMID:25393002|PMID:25741868|PMID:25892596|PMID:26799529|PMID:26858591|PMID:27066564|PMID:27393118|PMID:28012952|PMID:28416701|PMID:28492532|PMID:28666710|PMID:29233723|PMID:30423204|PMID:33617693|PMID:9197268|PMID:9499430|PMID:9506559|PMID:9827625 11670181 SNCA synuclein alpha gene DOID:0080855 Parkinsonism ISO RGD:733186 D RGD:9068941 20240111 CTD CTD Direct Evidence: marker/mechanism PMID:20464527|PMID:22319455|PMID:23046578|PMID:23295396|PMID:26075822|PMID:26558463|PMID:26687234|PMID:27026137|PMID:27324791|PMID:38016618 11670181 SNCA synuclein alpha gene DOID:0080855 Parkinsonism ISO RGD:735748 D RGD:9068941 20200609 RGD PMID:15147505|REF_RGD_ID:6478802 11670181 SNCA synuclein alpha gene DOID:0080855 Parkinsonism ISO RGD:735748 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:15499605|REF_RGD_ID:6478799 11670181 SNCA synuclein alpha gene DOID:10652 Alzheimer's disease ISO RGD:733186 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:11572944|REF_RGD_ID:1302528 11670181 SNCA synuclein alpha gene DOID:10652 Alzheimer's disease ISO RGD:733186 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:18577885|REF_RGD_ID:6478792 11670181 SNCA synuclein alpha gene DOID:11870 Pick's disease ISO RGD:733186 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus PMID:12410393|REF_RGD_ID:6480200 11670181 SNCA synuclein alpha gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:733186 D RGD:9068941 20200609 RGD protein:increased expression:cerebral spinal fluid: PMID:18625222|REF_RGD_ID:13506723 11670181 SNCA synuclein alpha gene DOID:12217 Lewy body dementia ISO RGD:733186 D RGD:7240710 20180130 OMIM 11670181 SNCA synuclein alpha gene DOID:12217 Lewy body dementia ISO RGD:733186 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Lewy Body Disease | ClinVar Annotator: match by term: Lewy body dementia PMID:10417297|PMID:10482268|PMID:11261505|PMID:11376188|PMID:12062037|PMID:14593171|PMID:14755719|PMID:14755720|PMID:15144854|PMID:15451224|PMID:15451225|PMID:15498564|PMID:15632170|PMID:16001411|PMID:16199547|PMID:16358335|PMID:17251522|PMID:17489854|PMID:17576681|PMID:17625105|PMID:18195271|PMID:18413475|PMID:18704525|PMID:18852445|PMID:18852448|PMID:18852449|PMID:19139307|PMID:19632874|PMID:19833540|PMID:20340137|PMID:21252228|PMID:21559878|PMID:23427326|PMID:23457019|PMID:23669636|PMID:23674501|PMID:23880019|PMID:24047453|PMID:24313877|PMID:24552873|PMID:24746362|PMID:24752924|PMID:24936070|PMID:24984882|PMID:25003242|PMID:25268550|PMID:25393002|PMID:25505181|PMID:25741868|PMID:25892596|PMID:26076669|PMID:26341711|PMID:26799529|PMID:26858591|PMID:27066564|PMID:27393118|PMID:27573854|PMID:28012952|PMID:28416701|PMID:28492532|PMID:28666710|PMID:29233723|PMID:29398121|PMID:29771508|PMID:30423204|PMID:30528390|PMID:30598256|PMID:31980526|PMID:31996268|PMID:32786148|PMID:33617693|PMID:9197268|PMID:9499430|PMID:9506559|PMID:9536098|PMID:9827625 11670181 SNCA synuclein alpha gene DOID:1289 neurodegenerative disease ISO RGD:733186 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:17296847|PMID:18514411|PMID:26075822 11670181 SNCA synuclein alpha gene DOID:13548 secondary Parkinson disease ISO RGD:733186 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34332006 11670181 SNCA synuclein alpha gene DOID:14330 Parkinson's disease ISO RGD:733186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant PMID:23427326|PMID:23457019|PMID:24047453|PMID:24752924|PMID:24936070|PMID:25393002|PMID:25741868|PMID:26341711|PMID:28492532|PMID:29398121|PMID:30528390 11670181 SNCA synuclein alpha gene DOID:14330 Parkinson's disease ISO RGD:733186 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant PMID:23427326|PMID:23457019|PMID:23669636|PMID:24047453|PMID:24752924|PMID:24936070|PMID:24984882|PMID:25393002|PMID:25505181|PMID:25741868|PMID:26076669|PMID:26341711|PMID:27573854|PMID:28492532|PMID:29398121|PMID:30528390|PMID:31980526|PMID:31996268 11670181 SNCA synuclein alpha gene DOID:1574 alcohol use disorder ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18055133 11670181 SNCA synuclein alpha gene DOID:1596 depressive disorder ISO RGD:3729 D RGD:9068941 20200609 RGD PMID:18800064|REF_RGD_ID:6218960 11670181 SNCA synuclein alpha gene DOID:1596 depressive disorder ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:19198857|REF_RGD_ID:6478716 11670181 SNCA synuclein alpha gene DOID:1926 Gaucher's disease ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19576930 11670181 SNCA synuclein alpha gene DOID:3192 neurilemmoma ISO RGD:3729 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm PMID:11810180|REF_RGD_ID:6218996 11670181 SNCA synuclein alpha gene DOID:3312 bipolar disorder ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:19198857|REF_RGD_ID:6478716 11670181 SNCA synuclein alpha gene DOID:3321 GM2 gangliosidosis ISO RGD:735748 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:12657883|REF_RGD_ID:6480199 11670181 SNCA synuclein alpha gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:10934140|REF_RGD_ID:6480098 11670181 SNCA synuclein alpha gene DOID:4752 multiple system atrophy ISO RGD:733186 D RGD:9068941 20200609 RGD protein:increased expression:oligodendrocyte PMID:9749615|REF_RGD_ID:6480091 11670181 SNCA synuclein alpha gene DOID:5419 schizophrenia ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:19198857|REF_RGD_ID:6478716 11670181 SNCA synuclein alpha gene DOID:6000 congestive heart failure ISO RGD:733186 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 11670181 SNCA synuclein alpha gene DOID:630 genetic disease ISO RGD:733186 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11670181 SNCA synuclein alpha gene DOID:670 amphetamine abuse ISO RGD:733186 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:15542733|PMID:32278788 11670181 SNCA synuclein alpha gene DOID:670 amphetamine abuse treatment ISO RGD:3729 D RGD:9068941 20200609 RGD PMID:20551914|REF_RGD_ID:13506280 11670181 SNCA synuclein alpha gene DOID:8646 substance-induced psychosis ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15542733 11670181 SNCA synuclein alpha gene DOID:8692 myeloid leukemia ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:21264917|REF_RGD_ID:6478703 11670181 SNCA synuclein alpha gene DOID:8725 vascular dementia ISO RGD:733186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 11670181 SNCA synuclein alpha gene DOID:893 Wilson disease ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 11670181 SNCA synuclein alpha gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:733186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 11670181 SNCA synuclein alpha gene DOID:9000304 Manganese Poisoning ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23934647 11670181 SNCA synuclein alpha gene DOID:9000542 Animal Lameness ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23219665 11670181 SNCA synuclein alpha gene DOID:9000998 Brain Injuries ISO RGD:3729 D RGD:9068941 20200609 RGD PMID:25089700|REF_RGD_ID:11576302 11670181 SNCA synuclein alpha gene DOID:9000998 Brain Injuries ISO RGD:735748 D RGD:9068941 20200609 RGD PMID:14637093|REF_RGD_ID:6480195 11670181 SNCA synuclein alpha gene DOID:9001981 Weight Loss ISO RGD:733186 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:32278788 11670181 SNCA synuclein alpha gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:733186 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:32278788 11670181 SNCA synuclein alpha gene DOID:9002955 Nerve Degeneration ISO RGD:733186 D RGD:9068941 20240905 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21039522|PMID:23106139|PMID:27585560|PMID:34562559|PMID:38311184 11670181 SNCA synuclein alpha gene DOID:9004866 Ataxia ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31783120 11670181 SNCA synuclein alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18055133 11670181 SNCA synuclein alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733186 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:dopamine neuron PMID:12684441|REF_RGD_ID:6480198 11670181 SNCA synuclein alpha gene DOID:9005940 Autosomal Dominant Diffuse Lewy Body Disease ISO RGD:733186 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease PMID:25393002|PMID:28492532 11670181 SNCA synuclein alpha gene DOID:9006205 Animal Disease Models ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892157|PMID:26075822 11670202 ADAD1 adenosine deaminase domain containing 1 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1606972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 11670202 ADAD1 adenosine deaminase domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11670228 CD163L1 CD163 molecule like 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1603525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11670228 CD163L1 CD163 molecule like 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1603525 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896 11670228 CD163L1 CD163 molecule like 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1603525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11670228 CD163L1 CD163 molecule like 1 gene DOID:0080600 COVID-19 ISO RGD:1603525 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11670228 CD163L1 CD163 molecule like 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1603525 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896 11670228 CD163L1 CD163 molecule like 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1603525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11670228 CD163L1 CD163 molecule like 1 gene DOID:1909 melanoma ISO RGD:1603525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 11670228 CD163L1 CD163 molecule like 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11670251 CRISP2 cysteine rich secretory protein 2 gene DOID:11372 megacolon ISO RGD:1315322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11670287 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:0060474 familial erythrocytosis 2 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:10567493|PMID:10830910|PMID:17537157|PMID:19280651|PMID:19764026|PMID:20567917|PMID:28492532|PMID:8634692 11670287 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1352437 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 11670287 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 11670287 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:13636 Fanconi anemia ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17436244|PMID:28492532 11670287 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:14175 von Hippel-Lindau disease ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:25741868 11670287 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11670287 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1352437 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myoclonic-astatic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 11670287 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 11670287 BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 11670298 TMOD2 tropomodulin 2 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1351754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 11670298 TMOD2 tropomodulin 2 gene DOID:2717 Bloom syndrome ISO RGD:1351754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11670298 TMOD2 tropomodulin 2 gene DOID:607 paraplegia ISO RGD:1351754 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 11670298 TMOD2 tropomodulin 2 gene DOID:9256 colorectal cancer ISO RGD:1351754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11670311 VEGFC vascular endothelial growth factor C gene DOID:0001816 angiosarcoma ISO RGD:732214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 11670311 VEGFC vascular endothelial growth factor C gene DOID:0002116 pterygium ISO RGD:732214 D RGD:9068941 20200609 RGD mRNA:increased expression:bulbar conjunctiva: PMID:22801834|REF_RGD_ID:8548457 11670311 VEGFC vascular endothelial growth factor C gene DOID:0050580 hereditary lymphedema ISO RGD:732215 D RGD:9068941 20220825 MouseDO OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907 11670311 VEGFC vascular endothelial growth factor C gene DOID:0070209 hereditary lymphedema ID ISO RGD:732214 D RGD:7240710 20180130 OMIM 11670311 VEGFC vascular endothelial growth factor C gene DOID:0070209 hereditary lymphedema ID ISO RGD:732214 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphedema, hereditary, ID PMID:23410910|PMID:24744435|PMID:25741868|PMID:30071673 11670311 VEGFC vascular endothelial growth factor C gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:17094484|REF_RGD_ID:2315482 11670311 VEGFC vascular endothelial growth factor C gene DOID:1909 melanoma ISO RGD:732214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17562445 11670311 VEGFC vascular endothelial growth factor C gene DOID:1936 atherosclerosis ISO RGD:732215 D RGD:9068941 20200609 RGD associated with hypercholesterolemia;protein:increased expression:serum: PMID:22206010|REF_RGD_ID:7483588 11670311 VEGFC vascular endothelial growth factor C gene DOID:2154 nephroblastoma disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:17257131|REF_RGD_ID:2315481 11670311 VEGFC vascular endothelial growth factor C gene DOID:234 colon adenocarcinoma ISO RGD:619800 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:18424890|REF_RGD_ID:2315488 11670311 VEGFC vascular endothelial growth factor C gene DOID:2394 ovarian cancer disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:19911196|REF_RGD_ID:2315470 11670311 VEGFC vascular endothelial growth factor C gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:19885590|REF_RGD_ID:2315471 11670311 VEGFC vascular endothelial growth factor C gene DOID:3113 papillary carcinoma disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD associated with thyroid diseases;mRNA:increased expression:thyroid gland: PMID:12203051|REF_RGD_ID:7483611 11670311 VEGFC vascular endothelial growth factor C gene DOID:3459 breast carcinoma ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:19382240|REF_RGD_ID:2315477 11670311 VEGFC vascular endothelial growth factor C gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:732214 D RGD:9068941 20221027 RGD protein:increased expression:pancreas (human) PMID:22082308|REF_RGD_ID:155630643 11670311 VEGFC vascular endothelial growth factor C gene DOID:4450 renal cell carcinoma ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:19500329|REF_RGD_ID:2315476 11670311 VEGFC vascular endothelial growth factor C gene DOID:5082 liver cirrhosis ISO RGD:732214 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:18544126|REF_RGD_ID:15003200 11670311 VEGFC vascular endothelial growth factor C gene DOID:630 genetic disease ISO RGD:732214 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11670311 VEGFC vascular endothelial growth factor C gene DOID:684 hepatocellular carcinoma ISO RGD:732214 D RGD:9068941 20200609 RGD associated with liver cirrhosis; protein:increased expression:liver: PMID:18544126|REF_RGD_ID:15003200 11670311 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:19923084|REF_RGD_ID:2315469 11670311 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Carcinoma, Transitional Cell;protein:increased expression:urinary bladder PMID:17034609|REF_RGD_ID:2315484 11670311 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:19589137|REF_RGD_ID:2315475 11670311 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Lymphatic Metastasis; PMID:15289890|REF_RGD_ID:7488946 11670311 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:19608016|REF_RGD_ID:2315474 11670311 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD associated with thyroid diseases;mRNA:increased expression:thyroid gland: PMID:12203051|REF_RGD_ID:7483611 11670311 VEGFC vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis exacerbates ISO RGD:732214 D RGD:9068941 20221027 RGD associated with pancreatic adenocarcinoma;protein:increased expression:pancreas (human) PMID:18061373|REF_RGD_ID:155630642 11670311 VEGFC vascular endothelial growth factor C gene DOID:9002801 Recurrence ISO RGD:732214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26124351 11670311 VEGFC vascular endothelial growth factor C gene DOID:9004009 Reperfusion Injury ISO RGD:619800 D RGD:9068941 20200609 RGD PMID:18704465|REF_RGD_ID:2315487 11670311 VEGFC vascular endothelial growth factor C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11670311 VEGFC vascular endothelial growth factor C gene DOID:9005873 Tongue Neoplasms disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:15289890|REF_RGD_ID:7488946 11670311 VEGFC vascular endothelial growth factor C gene DOID:9008939 Breast Neoplasms ISO RGD:732214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18509974|PMID:26124351 11670352 IL1RAP interleukin 1 receptor accessory protein gene DOID:409 liver disease ISO RGD:732294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11670352 IL1RAP interleukin 1 receptor accessory protein gene DOID:5419 schizophrenia ISO RGD:732294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11670352 IL1RAP interleukin 1 receptor accessory protein gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27738319 11670352 IL1RAP interleukin 1 receptor accessory protein gene DOID:684 hepatocellular carcinoma ISO RGD:732294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11670352 IL1RAP interleukin 1 receptor accessory protein gene DOID:9000918 Disease Progression ISO RGD:732294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27738319 11670352 IL1RAP interleukin 1 receptor accessory protein gene DOID:9002189 High Myopia ISO RGD:732294 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: High myopia PMID:25741868 11670381 TMEM249 transmembrane protein 249 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:6767351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11670381 TMEM249 transmembrane protein 249 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:6767351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11670381 TMEM249 transmembrane protein 249 gene DOID:4621 holoprosencephaly ISO RGD:6767351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11670381 TMEM249 transmembrane protein 249 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:6767351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 11670381 TMEM249 transmembrane protein 249 gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:6767351 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835 11670391 C16H15orf61 chromosome 16 C15orf61 homolog gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:2302457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 11670391 C16H15orf61 chromosome 16 C15orf61 homolog gene DOID:2717 Bloom syndrome ISO RGD:2302457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11670391 C16H15orf61 chromosome 16 C15orf61 homolog gene DOID:9256 colorectal cancer ISO RGD:2302457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11670412 LCNL1 lipocalin like 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11670412 LCNL1 lipocalin like 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1601788 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11670412 LCNL1 lipocalin like 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1601788 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11670412 LCNL1 lipocalin like 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11670412 LCNL1 lipocalin like 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1601788 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11670412 LCNL1 lipocalin like 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1601788 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11670412 LCNL1 lipocalin like 1 gene DOID:0080600 COVID-19 ISO RGD:1601788 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11670412 LCNL1 lipocalin like 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11670412 LCNL1 lipocalin like 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1601788 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11670412 LCNL1 lipocalin like 1 gene DOID:1826 epilepsy ISO RGD:1601788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 11670412 LCNL1 lipocalin like 1 gene DOID:3652 Leigh disease ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11670412 LCNL1 lipocalin like 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11670439 TMEM171 transmembrane protein 171 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11670449 SMAD5 SMAD family member 5 gene DOID:0060001 withdrawal disorder ISO RGD:1349958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 11670449 SMAD5 SMAD family member 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11670449 SMAD5 SMAD family member 5 gene DOID:2999 granulosa cell tumor ISO RGD:1550273 D RGD:9068941 20200609 RGD PMID:17967875|REF_RGD_ID:2299978 11670449 SMAD5 SMAD family member 5 gene DOID:9004207 Testicular Neoplasms ISO RGD:1550273 D RGD:9068941 20200609 RGD PMID:17967875|REF_RGD_ID:2299978 11670449 SMAD5 SMAD family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11670449 SMAD5 SMAD family member 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 11670449 SMAD5 SMAD family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11670449 SMAD5 SMAD family member 5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349958 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20079400 11670475 EGFLAM EGF like, fibronectin type III and laminin G domains gene DOID:9002189 High Myopia ISO RGD:1602070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 11670475 EGFLAM EGF like, fibronectin type III and laminin G domains gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11670507 TTC6 tetratricopeptide repeat domain 6 gene DOID:0050778 Meckel syndrome ISO RGD:1323287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 11670507 TTC6 tetratricopeptide repeat domain 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1323287 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11670563 PARP8 poly(ADP-ribose) polymerase family member 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11670606 ZFR2 zinc finger RNA binding protein 2 gene DOID:0080690 RASopathy ISO RGD:1312353 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: RASopathy PMID:23379592|PMID:27257017|PMID:27751966|PMID:28492532 11670606 ZFR2 zinc finger RNA binding protein 2 gene DOID:13938 amenorrhea ISO RGD:1312353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11670606 ZFR2 zinc finger RNA binding protein 2 gene DOID:9970 obesity ISO RGD:1312353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 11670631 STK10 serine/threonine kinase 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11670654 SRRM4 serine/arginine repetitive matrix 4 gene DOID:3426 vestibular disease ISO RGD:1603376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17613114 11670654 SRRM4 serine/arginine repetitive matrix 4 gene DOID:9002500 Hearing Disorders ISO RGD:1603376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17613114 11670671 TFAP2E transcription factor AP-2 epsilon gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1352189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11670686 FAM227A family with sequence similarity 227 member A gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:6767369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11670686 FAM227A family with sequence similarity 227 member A gene DOID:0090036 myoclonic dystonia 26 ISO RGD:6767369 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11670686 FAM227A family with sequence similarity 227 member A gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:6767369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11670686 FAM227A family with sequence similarity 227 member A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:6767369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11670786 DBNL drebrin like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11670786 DBNL drebrin like gene DOID:630 genetic disease ISO RGD:1606301 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11670786 DBNL drebrin like gene DOID:9000884 Rhabdomyolysis ISO RGD:1606301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:28779239 11670786 DBNL drebrin like gene DOID:9005787 Dimauro Disease ISO RGD:1606301 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Dimauro disease | ClinVar Annotator: match by term: GSD X | ClinVar Annotator: match by term: Myopathy due to phosphoglycerate mutase deficiency PMID:10545043|PMID:16881065|PMID:17576681|PMID:18852891|PMID:19273759|PMID:19322572|PMID:19783439|PMID:21444020|PMID:22995991|PMID:23169535|PMID:25741868|PMID:27612597|PMID:28492532|PMID:28944235|PMID:2987758|PMID:30310767|PMID:33782433|PMID:34237446|PMID:6308514|PMID:8447317|PMID:9536098 11670818 RNF19B ring finger protein 19B gene DOID:0080600 COVID-19 ISO RGD:1313515 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 11670818 RNF19B ring finger protein 19B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11670836 TDRKH tudor and KH domain containing gene DOID:0111940 immunodeficiency 42 ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11670836 TDRKH tudor and KH domain containing gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11670836 TDRKH tudor and KH domain containing gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1322527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11670836 TDRKH tudor and KH domain containing gene DOID:12377 spinal muscular atrophy ISO RGD:1322527 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:30503856 11670836 TDRKH tudor and KH domain containing gene DOID:14227 azoospermia ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 11670836 TDRKH tudor and KH domain containing gene DOID:1540 parathyroid carcinoma ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11670836 TDRKH tudor and KH domain containing gene DOID:5812 MHC class II deficiency ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11670836 TDRKH tudor and KH domain containing gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11670863 MEIS2 Meis homeobox 2 gene DOID:0050567 orofacial cleft ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:mutations, haplotype insufficiency: : PMID:24678003|REF_RGD_ID:155598680 11670863 MEIS2 Meis homeobox 2 gene DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity ISO RGD:1313085 D RGD:7240710 20190315 OMIM 11670863 MEIS2 Meis homeobox 2 gene DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity ISO RGD:1313085 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | ClinVar Annotator: match by term: MEIS2-related disorder PMID:17576681|PMID:24678003|PMID:25712757|PMID:25741868|PMID:27225850|PMID:28492532|PMID:30055086|PMID:30291340|PMID:30735726|PMID:32345733|PMID:33526774|PMID:9536098 11670863 MEIS2 Meis homeobox 2 gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:SNP::rs28480457(human) PMID:29452408|REF_RGD_ID:155630591 11670863 MEIS2 Meis homeobox 2 gene DOID:2717 Bloom syndrome ISO RGD:1313085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11670863 MEIS2 Meis homeobox 2 gene DOID:3454 brain infarction ISO RGD:1305198 D RGD:9068941 20221027 RGD protein:altered expression:brain (rat) PMID:12161747|REF_RGD_ID:155630606 11670863 MEIS2 Meis homeobox 2 gene DOID:630 genetic disease ISO RGD:1313085 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30291340|PMID:30735726|PMID:32345733 11670863 MEIS2 Meis homeobox 2 gene DOID:674 cleft palate ISO RGD:1313085 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868 11670863 MEIS2 Meis homeobox 2 gene DOID:8927 learning disability ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:mutations, haplotype insufficiency: : PMID:24678003|REF_RGD_ID:155598680 11670863 MEIS2 Meis homeobox 2 gene DOID:9004397 Calcification of Aortic Valve ISO RGD:1313085 D RGD:9068941 20221020 RGD mRNA,protein:decreased expression:aortic valve: PMID:30594396|REF_RGD_ID:155598679 11670863 MEIS2 Meis homeobox 2 gene DOID:9005813 DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:mutations:cds:multiples PMID:30291340|REF_RGD_ID:155598678 11670863 MEIS2 Meis homeobox 2 gene DOID:9256 colorectal cancer ISO RGD:1313085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11670903 SPATA32 spermatogenesis associated 32 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603588 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859 11670916 ERGIC3 ERGIC and golgi 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1317746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 11670916 ERGIC3 ERGIC and golgi 3 gene DOID:0080699 glutathione synthetase deficiency ISO RGD:1317746 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA PMID:12638941|PMID:15717202|PMID:28492532 11670916 ERGIC3 ERGIC and golgi 3 gene DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria ISO RGD:1317746 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY PMID:12638941|PMID:15717202|PMID:28492532 11670916 ERGIC3 ERGIC and golgi 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 11670916 ERGIC3 ERGIC and golgi 3 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1317747 D RGD:9068941 20220812 RGD PMID:27588471|REF_RGD_ID:153323314 11670916 ERGIC3 ERGIC and golgi 3 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1317746 D RGD:9068941 20220812 RGD mRNA,protein:increased expression:lung (human) PMID:23374247|REF_RGD_ID:151708716 11670916 ERGIC3 ERGIC and golgi 3 gene DOID:9002170 Experimental Neoplasms ISO RGD:1317746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 11670916 ERGIC3 ERGIC and golgi 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1317746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 11670916 ERGIC3 ERGIC and golgi 3 gene DOID:9008582 Developmental Disease ISO RGD:1317746 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Developmental disorder 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:25741868 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:1059 intellectual disability ISO RGD:1606336 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:34904718 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:11088 asphyxia neonatorum ISO RGD:68430 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:15453273|REF_RGD_ID:9999183 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:14566 disease of cellular proliferation ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17353921 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:2048 autoimmune hepatitis ISO RGD:1606336 D RGD:9068941 20200609 RGD PMID:20208391|REF_RGD_ID:9999172 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:2048 autoimmune hepatitis ISO RGD:68430 D RGD:9068941 20200609 RGD PMID:20208391|REF_RGD_ID:9999172 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:2055 post-traumatic stress disorder ISO RGD:68430 D RGD:9068941 20200609 RGD PMID:25331812|REF_RGD_ID:13782181 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:2717 Bloom syndrome ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:5082 liver cirrhosis ISO RGD:68430 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:24562544|REF_RGD_ID:9999176 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:5082 liver cirrhosis severity ISO RGD:1606336 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:24562544|REF_RGD_ID:9999176 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:5434 scrapie ISO RGD:1553192 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:15772339|REF_RGD_ID:9999196 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:6432 pulmonary hypertension ISO RGD:68430 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:23315792|REF_RGD_ID:9999167 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9002477 Deafness-Infertility Syndrome ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:25741868 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:68430 D RGD:9068941 20200609 RGD PMID:12872233|REF_RGD_ID:1624250 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9007993 Dehydration ISO RGD:68430 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:17412804|REF_RGD_ID:1642352 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9256 colorectal cancer ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9778 irritable bowel syndrome ISO RGD:68430 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa: PMID:20367971|REF_RGD_ID:9999158 11670937 PDIA3 protein disulfide isomerase family A member 3 gene DOID:9778 irritable bowel syndrome severity ISO RGD:68430 D RGD:9068941 20200609 RGD PMID:26221224|REF_RGD_ID:13838729 11670954 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:10763 hypertension ISO RGD:2175 D RGD:9068941 20200609 RGD PMID:11208768|REF_RGD_ID:68726 11670954 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:657 adenoma ISO RGD:732893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23913004 11670954 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2175 D RGD:9068941 20200609 RGD PMID:20122173|REF_RGD_ID:13782130 11670954 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11670954 ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 11670986 DDIT4 DNA damage inducible transcript 4 gene DOID:0080600 COVID-19 ISO RGD:1346554 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11670986 DDIT4 DNA damage inducible transcript 4 gene DOID:1240 leukemia ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17379067 11670986 DDIT4 DNA damage inducible transcript 4 gene DOID:14330 Parkinson's disease ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17005863 11670986 DDIT4 DNA damage inducible transcript 4 gene DOID:403 mouth disease ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 11670986 DDIT4 DNA damage inducible transcript 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 11670986 DDIT4 DNA damage inducible transcript 4 gene DOID:9002955 Nerve Degeneration ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17005863 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1348418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1348418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:28492532 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1348418 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1348418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:2316 brain ischemia ISO RGD:620189 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:7643220|REF_RGD_ID:632531 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:2841 asthma ISO RGD:620189 D RGD:9068941 20200609 RGD PMID:17145927|REF_RGD_ID:1601020 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:630 genetic disease ISO RGD:1348418 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:9007475 Pulmonary Surfactant Metabolism Dysfunction 5 ISO RGD:1348418 D RGD:7240710 20180130 OMIM 11670993 CSF2RB colony stimulating factor 2 receptor subunit beta gene DOID:9007475 Pulmonary Surfactant Metabolism Dysfunction 5 ISO RGD:1348418 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: CSF2RB-related condition | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5 PMID:17576681|PMID:21075760|PMID:21205713|PMID:24033266|PMID:25741868|PMID:27118405|PMID:28492532|PMID:9536098 11671015 LOC100989368 Kell metallo-endopeptidase (Kell blood group) gene DOID:1098 hemolytic disease of the fetus ISO RGD:1316929 D RGD:8554872 20241015 ClinVar ClinVar Annotator: match by term: KELL K/k BLOOD GROUP POLYMORPHISM PMID:25741868|PMID:7849312|PMID:8652402 11671015 LOC100989368 Kell metallo-endopeptidase (Kell blood group) gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1316929 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:0060476 Perlman syndrome ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:0110118 Leber congenital amaurosis 16 ISO RGD:1314368 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 16 PMID:18179896|PMID:21763485|PMID:23255580|PMID:23977131|PMID:25326637|PMID:25475713|PMID:25741868|PMID:25921210|PMID:27203561|PMID:28492532|PMID:29068479|PMID:32507954 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:0111570 snowflake vitreoretinal degeneration ISO RGD:1314368 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Snowflake vitreoretinal degeneration PMID:15557460|PMID:18179896|PMID:23255580|PMID:23977131|PMID:25741868|PMID:28492532|PMID:33546218 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1314368 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25326637 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:8501 fundus dystrophy ISO RGD:1314368 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18179896|PMID:21763485|PMID:23255580|PMID:23977131|PMID:25741868|PMID:28492532|PMID:29068479|PMID:32507954 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:9007737 Parkinson's Disease 11 ISO RGD:1314368 D RGD:7240710 20180130 OMIM 11671043 GIGYF2 GRB10 interacting GYF protein 2 gene DOID:9007737 Parkinson's Disease 11 ISO RGD:1314368 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: GIGYF2-related condition | ClinVar Annotator: match by term: Parkinson disease 11, autosomal dominant, susceptibility to PMID:18358451|PMID:18923002|PMID:19133664|PMID:19250854|PMID:19279319|PMID:19449032|PMID:19638301|PMID:20060621|PMID:24033266|PMID:25174650|PMID:25326637|PMID:25741868|PMID:26152800 11671102 CYP26C1 cytochrome P450 family 26 subfamily C member 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1318849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 11671102 CYP26C1 cytochrome P450 family 26 subfamily C member 1 gene DOID:9000745 Focal Facial Dermal Dysplasia ISO RGD:1318849 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism 11671102 CYP26C1 cytochrome P450 family 26 subfamily C member 1 gene DOID:9000763 Focal Facial Dermal Dysplasia 4 ISO RGD:1318849 D RGD:7240710 20180130 OMIM 11671102 CYP26C1 cytochrome P450 family 26 subfamily C member 1 gene DOID:9000763 Focal Facial Dermal Dysplasia 4 ISO RGD:1318849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CYP26C1-related condition | ClinVar Annotator: match by term: Focal facial dermal dysplasia 4 PMID:16530710|PMID:23161670|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29263414 11671126 PLXNA1 plexin A1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1342576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 11671126 PLXNA1 plexin A1 gene DOID:1059 intellectual disability ISO RGD:1342576 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: intellectual disabilities 11671126 PLXNA1 plexin A1 gene DOID:1826 epilepsy ISO RGD:1342576 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizures 11671126 PLXNA1 plexin A1 gene DOID:9000876 DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME ISO RGD:1342576 D RGD:7240710 20221207 OMIM 11671126 PLXNA1 plexin A1 gene DOID:9000876 DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME ISO RGD:1342576 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Dworschak-Punetha neurodevelopmental syndrome | ClinVar Annotator: match by term: PLXNA1-related condition | ClinVar Annotator: match by term: PLXNA1-related neurodevelopmental disorder PMID:25741868|PMID:28334861|PMID:28492532|PMID:30467832|PMID:34054129 11671126 PLXNA1 plexin A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342576 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34054129 11671126 PLXNA1 plexin A1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1342576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 11671126 PLXNA1 plexin A1 gene DOID:9270 alkaptonuria ISO RGD:1342576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1347386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:0080820 occupational asthma susceptibility ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:SNP: : rs928976(human) PMID:24709764|REF_RGD_ID:13506912 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:0081267 graft-versus-host disease severity ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphsims: :multiple (human) PMID:12774051|REF_RGD_ID:150429809 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:10322 berylliosis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11551429|PMID:14662898|PMID:15273960|PMID:17927685|PMID:17956852|PMID:8105536 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:10608 celiac disease ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17956852 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:11166 papillomavirus infectious disease susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD associated with cervical cancer;DNA:polymorphism: :HLA-DPB1*040101 (human) PMID:17349874|REF_RGD_ID:150429811 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:11335 sarcoidosis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14508706|PMID:17956852|PMID:8909942 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:1555 urticaria ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:1558 angioedema ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15784113 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2043 hepatitis B disease_progression ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:polymorphisms:3-UTR:rs9277534(human) PMID:22496224|REF_RGD_ID:14694821 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2043 hepatitis B severity ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:SNPs, haplotype:3' utr:multiple (human) PMID:26197724|REF_RGD_ID:11553629 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2043 hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:SNP: :rs9277535(human) PMID:27051043|REF_RGD_ID:14694816 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2043 hepatitis B treatment ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:SNP: :rs7770370(human) PMID:27083422|REF_RGD_ID:14694820 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:SNP, polymorphism:3' utr, :g.33087030G>A, HLA-DPB1*04:05 (rs9277534) (human) PMID:30093645|REF_RGD_ID:150429797 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2377 multiple sclerosis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17956852 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2377 multiple sclerosis ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphism: :HLA-DPB1*0501 (human) PMID:17125797|REF_RGD_ID:150429801 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphisms: :HLA-DPB1*02, HLA-DPB1*03, HLA-DPB1*04 (human) PMID:32560041|REF_RGD_ID:150429806 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2772 irritant dermatitis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2841 asthma ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16792590|PMID:17956852 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2841 asthma ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:haplotype PMID:21217921|REF_RGD_ID:5143938 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2841 asthma susceptibility ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:21814517|REF_RGD_ID:13506911 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:289 endometriosis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17956852 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2938 Epstein-Barr virus infectious disease susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD associated with infectious mononucleosis, Hodgkin's lymphoma;DNA:polymorphism: :HLA-DPB1*0301 (human) PMID:11401923|REF_RGD_ID:150429800 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2957 pulmonary tuberculosis ISO RGD:1347386 D RGD:9068941 20200609 RGD PMID:18652916|REF_RGD_ID:5144001 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1347386 D RGD:9068941 20200609 RGD PMID:21423603|REF_RGD_ID:5143980 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:322 myelitis susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphism: :HLA-DPB1*0201 (human) PMID:22884298|REF_RGD_ID:150429795 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:409 liver disease exacerbates ISO RGD:1347386 D RGD:9068941 20211001 RGD associated with Chronic Hepatitis C;mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:28332201|REF_RGD_ID:150429805 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:4362 cervical cancer susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphism: :HLA-DPB1*1301 (human) PMID:17349874|REF_RGD_ID:150429811 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:437 myasthenia gravis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17956852 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:1347386 D RGD:9068941 20200609 RGD PMID:21569485|REF_RGD_ID:5147561 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:7148 rheumatoid arthritis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17956852|PMID:22286218 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:850 lung disease ISO RGD:1347386 D RGD:9068941 20200609 RGD PMID:21186201|REF_RGD_ID:5143998 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:8986 narcolepsy susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphisms, haplotypes: :multiple (human) PMID:25574827|REF_RGD_ID:150429810 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347386 D RGD:9068941 20231102 RGD mRNA:increased expression:nephron tubule (human) PMID:35592524|REF_RGD_ID:401851916 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817570 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347386 D RGD:9068941 20211001 RGD mRNA:increased expression:peripheral blood mononuclear cell(human) PMID:28332201|REF_RGD_ID:150429805 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphism: :HLA-DPB1*04:01 (human) PMID:27601657|REF_RGD_ID:150429796 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9005236 Drug Eruptions ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9006788 Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis susceptibility ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DPB1*0202 (human) PMID:19165231|REF_RGD_ID:5143999 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008023 Memory Disorders ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14975599 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19349983 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1347386 D RGD:9068941 20210917 RGD DNA:SNPs:multiple (human) PMID:21274863|REF_RGD_ID:150429660 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:SNP: :rs33054861(human) PMID:27051043|REF_RGD_ID:14694816 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:SNP:exon 6: (rs9277542) (human) PMID:22737229|REF_RGD_ID:150429807 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:SNP:exon, 3' utr: (rs9277542) (human) PMID:28267888|REF_RGD_ID:14974232 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphism:exon, 3' utr: (rs9277535) (human) PMID:21310144|REF_RGD_ID:150429802 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphisms, haplotypes:multiple (human) PMID:19349983|PMID:24520320|REF_RGD_ID:150429799|REF_RGD_ID:150429808 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphisms:multiple (human) PMID:26449183|REF_RGD_ID:11536957 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphism: :(human) PMID:25109699|REF_RGD_ID:150429794 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9415 allergic asthma susceptibility ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:polymorphism: PMID:28380482|REF_RGD_ID:13506910 11671164 LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347386 D RGD:9068941 20200609 RGD PMID:7576003|REF_RGD_ID:6480651 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:7240710 20180130 OMIM 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18414213|PMID:19763152|PMID:20307669|PMID:21157496|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23188138|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26566502|PMID:26633542|PMID:26636822|PMID:27178444|PMID:27665122|PMID:28402684|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29079548|PMID:29193673|PMID:29345162|PMID:29588463|PMID:29610177|PMID:29715191|PMID:30029497|PMID:30064963|PMID:30311386|PMID:30488743|PMID:31607746|PMID:31630094|PMID:31638414|PMID:31755649|PMID:32531870|PMID:32581362|PMID:32944671|PMID:32973878|PMID:9063741|PMID:9409865|PMID:9536098 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18195218|PMID:18414213|PMID:18654604|PMID:19283855|PMID:19763152|PMID:20307669|PMID:21128906|PMID:21157496|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22498418|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23033341|PMID:23188138|PMID:23661369|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24257694|PMID:24400638|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24690487|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25469153|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26066530|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26566502|PMID:26633542|PMID:26636822|PMID:26704672|PMID:26992781|PMID:27178444|PMID:27486776|PMID:27665122|PMID:28112973|PMID:28145517|PMID:28402684|PMID:28432734|PMID:28456785|PMID:28492532|PMID:28502102|PMID:28573831|PMID:28717663|PMID:28724398|PMID:28912962|PMID:29079548|PMID:29193673|PMID:29302074|PMID:29345162|PMID:29588463|PMID:29590070|PMID:29610177|PMID:29681726|PMID:29715191|PMID:29718281|PMID:29961767|PMID:29970176|PMID:29976977|PMID:30029497|PMID:30054919|PMID:30064963|PMID:30311386|PMID:30421101|PMID:30488743|PMID:30513137|PMID:30532227|PMID:30600744|PMID:31106028|PMID:31456290|PMID:31607746|PMID:31624253|PMID:31630094|PMID:31638414|PMID:31755649|PMID:31810438|PMID:31898538|PMID:32349990|PMID:32483926|PMID:32503575|PMID:32531858|PMID:32531870|PMID:32581362|PMID:32682410|PMID:32746448|PMID:32856788|PMID:32867697|PMID:32944671|PMID:32973878|PMID:33179747|PMID:33502066|PMID:33669459|PMID:33924909|PMID:33981653|PMID:34147365|PMID:34148947|PMID:34547244|PMID:34906470|PMID:34935411|PMID:9063741|PMID:9409865|PMID:9536098 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18195218|PMID:18414213|PMID:18654604|PMID:19283855|PMID:19763152|PMID:20307669|PMID:21128906|PMID:21157496|PMID:21158358|PMID:21541333|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22498418|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23033341|PMID:23188138|PMID:23571587|PMID:23661369|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24257694|PMID:2440063|PMID:24400638|PMID:24462884|PMID:24503146|PMID:24534407|PMID:24595103|PMID:24690487|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25469153|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25864795|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26066530|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26496393|PMID:26566502|PMID:26633542|PMID:26636822|PMID:26704672|PMID:26992781|PMID:27178444|PMID:27260402|PMID:27375279|PMID:27486776|PMID:27523285|PMID:27665122|PMID:28112973|PMID:28145517|PMID:28402684|PMID:28432734|PMID:28456785|PMID:28492532|PMID:28502102|PMID:28518168|PMID:28573831|PMID:2871766|PMID:28717663|PMID:28724398|PMID:28912962|PMID:29079548|PMID:29193673|PMID:29302074|PMID:29345162|PMID:29588463|PMID:29590070|PMID:29610177|PMID:29681726|PMID:29715191|PMID:29718281|PMID:29961767|PMID:29970176|PMID:30029497|PMID:30054919|PMID:30064963|PMID:30311386|PMID:30421101|PMID:30488743|PMID:30513137|PMID:30532227|PMID:30600744|PMID:31106028|PMID:31308072|PMID:31456290|PMID:31607746|PMID:31624253|PMID:31630094|PMID:31638414|PMID:31755649|PMID:31810438|PMID:31898538|PMID:32037395|PMID:32349990|PMID:32396277|PMID:32451492|PMID:32461654|PMID:32483926|PMID:32503575|PMID:32531858|PMID:32531870|PMID:32581362|PMID:32682410|PMID:32746448|PMID:32856788|PMID:32867697|PMID:32870709|PMID:32944671|PMID:32945434|PMID:32973878|PMID:33179747|PMID:33502066|PMID:33669459|PMID:33782391|PMID:33924909|PMID:33981653|PMID:34147365|PMID:34148116|PMID:34148947|PMID:34547244|PMID:34716235|PMID:34795310|PMID:34906470|PMID:34935411|PMID:35211159|PMID:35764379|PMID:35786123|PMID:36109815|PMID:36162988|PMID:36178741|PMID:36252119|PMID:36413997|PMID:36460718|PMID:36685911|PMID:36927560|PMID:37321834|PMID:38674329|PMID:9063741|PMID:9343467|PMID:9409865|PMID:9536098 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome susceptibility ISO RGD:1323128 D RGD:9068941 20200609 RGD DNA:frameshift mutations, nonsense mutations PMID:11941369|REF_RGD_ID:1601169 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0050572 cone-rod dystrophy ISO RGD:1323128 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:17594715|PMID:25741868|PMID:26047050|PMID:26077327|PMID:28492532|PMID:29588463 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1323128 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:0080046 Stickler syndrome ISO RGD:1323128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:17594715|PMID:28492532|PMID:30311386 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:10579 leukodystrophy ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:10581 metachromatic leukodystrophy ISO RGD:1323128 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy variant PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:10584 retinitis pigmentosa ISO RGD:1323128 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17594715|PMID:25706677|PMID:25741868|PMID:25846608|PMID:28492532|PMID:30718709|PMID:32037395|PMID:34906470 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:1059 intellectual disability ISO RGD:1323128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17594715|PMID:25741868|PMID:25846608|PMID:28492532 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:1184 nephrotic syndrome ISO RGD:1323128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28492532 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1323128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22447358 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:14250 Down syndrome ISO RGD:1323128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Down syndrome PMID:28492532|PMID:30311386 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:14791 Leber congenital amaurosis ISO RGD:1323128 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:26633542|PMID:28492532|PMID:31630094|PMID:31755649|PMID:32531870|PMID:36162988 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323128 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:15689433|PMID:17594715|PMID:2440063|PMID:24400638|PMID:25741868|PMID:28492532 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:543 dystonia ISO RGD:1323128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:5723 optic atrophy ISO RGD:1323128 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:783 end stage renal disease ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:8501 fundus dystrophy ISO RGD:1323128 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11941369|PMID:11941370|PMID:15689433|PMID:16720663|PMID:17594715|PMID:18154657|PMID:18414213|PMID:21157496|PMID:21897446|PMID:22498418|PMID:22555271|PMID:23188138|PMID:23571587|PMID:23847139|PMID:24033266|PMID:2440063|PMID:24400638|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24830966|PMID:25296579|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25864795|PMID:26066530|PMID:26082521|PMID:26283575|PMID:26467025|PMID:26566502|PMID:27260402|PMID:27375279|PMID:28041643|PMID:28112973|PMID:28402684|PMID:28432734|PMID:28492532|PMID:28502102|PMID:2871766|PMID:28717663|PMID:29193673|PMID:30054919|PMID:30064963|PMID:30421101|PMID:30513137|PMID:31456290|PMID:31810438|PMID:31898538|PMID:32349990|PMID:32396277|PMID:32451492|PMID:32483926|PMID:32531858|PMID:32867697|PMID:32870709|PMID:32944671|PMID:33669459|PMID:34148116|PMID:34148947|PMID:34716235|PMID:34795310|PMID:34906470|PMID:35764379|PMID:38674329|PMID:9343467 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9000343 Vision Disorders ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1323128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9004538 Hearing Loss ISO RGD:1323128 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:30311386|PMID:32581362 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9008296 Eye Abnormalities ISO RGD:1323128 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9008818 Retinal Dystrophy, Early Onset Severe ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, early-onset severe PMID:17594715|PMID:18414213|PMID:22876109|PMID:25741868|PMID:25846608|PMID:26704672|PMID:28112973|PMID:28432734|PMID:28492532|PMID:29718281 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9351 diabetes mellitus ISO RGD:1323128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18154657|PMID:21157496|PMID:21943378|PMID:22876109|PMID:24033266|PMID:24503146|PMID:24830966|PMID:25296579|PMID:25533962|PMID:25741868|PMID:25846608|PMID:26082521|PMID:26104972|PMID:26239645|PMID:26283575|PMID:26467025|PMID:26636822|PMID:27178444|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29610177 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9351 diabetes mellitus ISO RGD:1323128 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18154657|PMID:21157496|PMID:21943378|PMID:22876109|PMID:23033341|PMID:24033266|PMID:24503146|PMID:24830966|PMID:25296579|PMID:25533962|PMID:25741868|PMID:25846608|PMID:26082521|PMID:26104972|PMID:26239645|PMID:26283575|PMID:26467025|PMID:26636822|PMID:27178444|PMID:28432734|PMID:28492532|PMID:28502102|PMID:2871766|PMID:28717663|PMID:29610177|PMID:30421101|PMID:32483926|PMID:32746448|PMID:32945434|PMID:33669459|PMID:34148947|PMID:34716235|PMID:36109815 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1323128 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1320374, rs1881245, rs3820700 (human) PMID:16601972|REF_RGD_ID:8696017 11671174 ALMS1 ALMS1 centrosome and basal body associated protein gene DOID:9970 obesity ISO RGD:1616534 D RGD:9068941 20220825 MouseDO OMIM:601665 11671200 THUMPD1 THUMP domain containing 1 gene DOID:630 genetic disease ISO RGD:1318865 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30237576|PMID:35196516 11671200 THUMPD1 THUMP domain containing 1 gene DOID:9004131 NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES ISO RGD:1318865 D RGD:7240710 20221221 OMIM 11671200 THUMPD1 THUMP domain containing 1 gene DOID:9004131 NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES ISO RGD:1318865 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with speech delay and variable ocular anomalies PMID:25741868|PMID:30237576|PMID:35196516 11671200 THUMPD1 THUMP domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318865 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30237576|PMID:35196516 11671208 NUDT3 nudix hydrolase 3 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1320933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1315796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1315796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20683989 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1315796 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:25741868|PMID:28492532 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1315796 D RGD:7240710 20180130 OMIM 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1315796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:10051604|PMID:16199547|PMID:17576681|PMID:20683989|PMID:21031596|PMID:25741868|PMID:28281558|PMID:28492532|PMID:30561787|PMID:33798445|PMID:9536098 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1315796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:1540 parathyroid carcinoma ISO RGD:1315796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:630 genetic disease ISO RGD:1315796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:905 Zellweger syndrome ISO RGD:1315796 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:25741868 11671233 PEX19 peroxisomal biogenesis factor 19 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11671283 PHB1 prohibitin 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 11671283 PHB1 prohibitin 1 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:736948 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 11671283 PHB1 prohibitin 1 gene DOID:11054 urinary bladder cancer ISO RGD:3322 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:8062216|REF_RGD_ID:2292407 11671283 PHB1 prohibitin 1 gene DOID:1612 breast cancer ISO RGD:736948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:11377649|PMID:8809404 11671283 PHB1 prohibitin 1 gene DOID:1612 breast cancer no_association ISO RGD:736948 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1703C>T PMID:14652295|REF_RGD_ID:2292402 11671283 PHB1 prohibitin 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736948 D RGD:7240710 20230505 OMIM 11671283 PHB1 prohibitin 1 gene DOID:2394 ovarian cancer ISO RGD:736948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 11671283 PHB1 prohibitin 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:736948 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:17465217|REF_RGD_ID:2292396 11671283 PHB1 prohibitin 1 gene DOID:299 adenocarcinoma ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 11671283 PHB1 prohibitin 1 gene DOID:305 carcinoma ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11671283 PHB1 prohibitin 1 gene DOID:5419 schizophrenia ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18504422 11671283 PHB1 prohibitin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736948 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:38922859 11671283 PHB1 prohibitin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 11671283 PHB1 prohibitin 1 gene DOID:8029 sporadic breast cancer ISO RGD:736948 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, mutations: :multiple PMID:1540973|REF_RGD_ID:2292408 11671283 PHB1 prohibitin 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:736948 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:18384941|REF_RGD_ID:2292382 11671283 PHB1 prohibitin 1 gene DOID:8646 substance-induced psychosis ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18504422 11671283 PHB1 prohibitin 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:736948 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16426920|REF_RGD_ID:2292398 11671283 PHB1 prohibitin 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 11671283 PHB1 prohibitin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:21364753 11671283 PHB1 prohibitin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11671283 PHB1 prohibitin 1 gene DOID:9000784 Fibrosis ISO RGD:736948 D RGD:9068941 20200609 RGD associated with Glomerulonephritis;protein:decreased expression:kidney, epithelial cell PMID:17043753|REF_RGD_ID:2292410 11671283 PHB1 prohibitin 1 gene DOID:9000918 Disease Progression ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11671283 PHB1 prohibitin 1 gene DOID:9000998 Brain Injuries ISO RGD:3322 D RGD:9068941 20200609 RGD protein:increased oxidation:cerebral cortex PMID:17518533|REF_RGD_ID:2292409 11671283 PHB1 prohibitin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736948 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:18384941|REF_RGD_ID:2292382 11671283 PHB1 prohibitin 1 gene DOID:9002762 Ovarian Neoplasms no_association ISO RGD:736948 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1703C>T PMID:12821355|REF_RGD_ID:2292403 11671283 PHB1 prohibitin 1 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:736948 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16426920|REF_RGD_ID:2292398 11671283 PHB1 prohibitin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3322 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mammary gland PMID:12376462|REF_RGD_ID:2292404 11671283 PHB1 prohibitin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 11671283 PHB1 prohibitin 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736948 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:10421803|REF_RGD_ID:2292406 11671283 PHB1 prohibitin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11671300 RPS2 ribosomal protein S2 gene DOID:0060224 atrial fibrillation ISO RGD:732314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 11671300 RPS2 ribosomal protein S2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:732314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 11671300 RPS2 ribosomal protein S2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:732314 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532|PMID:30866059 11671300 RPS2 ribosomal protein S2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:732314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11671300 RPS2 ribosomal protein S2 gene DOID:1826 epilepsy ISO RGD:732314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11671300 RPS2 ribosomal protein S2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11671300 RPS2 ribosomal protein S2 gene DOID:9002669 Hypoxia ISO RGD:732314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 11671310 PRAC1 PRAC1 small nuclear protein gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1601838 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 11671310 PRAC1 PRAC1 small nuclear protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1601838 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:38922859 11671317 PLEC plectin gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:731690 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 11671317 PLEC plectin gene DOID:0060736 epidermolysis bullosa simplex Ogna type ISO RGD:731690 D RGD:7240710 20180130 OMIM 11671317 PLEC plectin gene DOID:0060736 epidermolysis bullosa simplex Ogna type ISO RGD:731690 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:11851880|PMID:15206692|PMID:15810881|PMID:17576681|PMID:18414213|PMID:20016501|PMID:20301336|PMID:21263134|PMID:22144912|PMID:22854623|PMID:22864774|PMID:23757202|PMID:23774525|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26498160|PMID:28400893|PMID:28492532|PMID:29050564|PMID:29334134|PMID:29453417|PMID:30691450|PMID:30919572|PMID:31862442|PMID:32017015|PMID:32576226|PMID:9536098 11671317 PLEC plectin gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:731690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11671317 PLEC plectin gene DOID:0090005 Schwartz-Jampel syndrome 1 ISO RGD:731690 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Qualitative or quantitative defects of plectin PMID:25741868 11671317 PLEC plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:7240710 20180130 OMIM 11671317 PLEC plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15654962|PMID:15659326|PMID:15810881|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:29797489|PMID:30293987|PMID:30919572|PMID:31319225|PMID:31513275|PMID:31517061|PMID:31641117|PMID:32017015|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098 11671317 PLEC plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15654962|PMID:15659326|PMID:15810881|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20052759|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:29797489|PMID:30919572|PMID:31319225|PMID:31517061|PMID:31641117|PMID:32017015|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098 11671317 PLEC plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15206692|PMID:15654962|PMID:15659326|PMID:15810881|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20052759|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28447722|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:29797489|PMID:30919572|PMID:31319225|PMID:31517061|PMID:31641117|PMID:32017015|PMID:32725257|PMID:34572129|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098 11671317 PLEC plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652001|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15206692|PMID:15654962|PMID:15659326|PMID:15810881|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20052759|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22144912|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25454730|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:26498160|PMID:27234031|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28447722|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:29970176|PMID:30161220|PMID:30293987|PMID:30691450|PMID:30919572|PMID:31001817|PMID:31066050|PMID:31230720|PMID:31269534|PMID:31319225|PMID:31509265|PMID:31513275|PMID:31517061|PMID:31641117|PMID:31862442|PMID:32017015|PMID:32576226|PMID:32707200|PMID:32725257|PMID:33057194|PMID:34046686|PMID:34572129|PMID:35579050|PMID:35670010|PMID:35815343|PMID:35982159|PMID:38818036|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098|PMID:9886273 11671317 PLEC plectin gene DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia ISO RGD:731690 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Qualitative or quantitative defects of plectin PMID:25741868 11671317 PLEC plectin gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:731690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:25741868|PMID:26467025|PMID:28492532 11671317 PLEC plectin gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:731690 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:25741868 11671317 PLEC plectin gene DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q ISO RGD:731690 D RGD:7240710 20180130 OMIM 11671317 PLEC plectin gene DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q ISO RGD:731690 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2Q | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 PMID:10652002|PMID:11851880|PMID:15206692|PMID:15810881|PMID:17576681|PMID:20301336|PMID:20447487|PMID:21109228|PMID:21263134|PMID:22144912|PMID:22854623|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26498160|PMID:28447722|PMID:28492532|PMID:28824526|PMID:29050564|PMID:29453417|PMID:30691450|PMID:30919572|PMID:31230720|PMID:31319225|PMID:31862442|PMID:32017015|PMID:32576226|PMID:34572129|PMID:9536098 11671317 PLEC plectin gene DOID:12930 dilated cardiomyopathy ISO RGD:731690 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 11671317 PLEC plectin gene DOID:423 myopathy ISO RGD:731690 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10652001|PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:25454730|PMID:25741868|PMID:28400893|PMID:28492532|PMID:28824526 11671317 PLEC plectin gene DOID:4621 holoprosencephaly ISO RGD:731690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11671317 PLEC plectin gene DOID:4644 epidermolysis bullosa simplex ISO RGD:731690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex PMID:11851880|PMID:23289980|PMID:25741868|PMID:28492532 11671317 PLEC plectin gene DOID:630 genetic disease ISO RGD:731690 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30161220|PMID:35579050|PMID:35670010|PMID:35815343|PMID:38818036 11671317 PLEC plectin gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:731690 D RGD:7240710 20180130 OMIM 11671317 PLEC plectin gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:731690 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:11851880|PMID:15206692|PMID:15659326|PMID:15810881|PMID:17576681|PMID:20301336|PMID:20447487|PMID:21109228|PMID:21263134|PMID:22144912|PMID:22854623|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:25712130|PMID:25741868|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29453417|PMID:30691450|PMID:30919572|PMID:31862442|PMID:32017015|PMID:32576226|PMID:32725257|PMID:9536098 11671317 PLEC plectin gene DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia ISO RGD:731690 D RGD:7240710 20180130 OMIM 11671317 PLEC plectin gene DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia ISO RGD:731690 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5C, with pyloric atresia | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:11851880|PMID:14675180|PMID:15206692|PMID:15654962|PMID:15681471|PMID:15810881|PMID:17576681|PMID:20301336|PMID:21263134|PMID:22144912|PMID:22854623|PMID:23757202|PMID:23774525|PMID:24033266|PMID:25712130|PMID:25741868|PMID:26467025|PMID:26498160|PMID:28492532|PMID:29050564|PMID:29453417|PMID:30691450|PMID:30919572|PMID:31862442|PMID:32017015|PMID:32576226|PMID:9536098 11671317 PLEC plectin gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:731690 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835 11671355 CSDE1 cold shock domain containing E1 gene DOID:0080690 RASopathy ISO RGD:1607084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11671355 CSDE1 cold shock domain containing E1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1607084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 11671355 CSDE1 cold shock domain containing E1 gene DOID:630 genetic disease ISO RGD:1607084 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11671395 UXS1 UDP-glucuronate decarboxylase 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 11671420 ODAPH odontogenesis associated phosphoprotein gene DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 ISO RGD:1604986 D RGD:7240710 20180130 OMIM 11671420 ODAPH odontogenesis associated phosphoprotein gene DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 ISO RGD:1604986 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4 PMID:22901946|PMID:25741868 11671420 ODAPH odontogenesis associated phosphoprotein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1604986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 11671435 PRUNE1 prune exopolyphosphatase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11671435 PRUNE1 prune exopolyphosphatase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11671435 PRUNE1 prune exopolyphosphatase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11671435 PRUNE1 prune exopolyphosphatase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11671435 PRUNE1 prune exopolyphosphatase 1 gene DOID:5812 MHC class II deficiency ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11671435 PRUNE1 prune exopolyphosphatase 1 gene DOID:630 genetic disease ISO RGD:1350944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11671435 PRUNE1 prune exopolyphosphatase 1 gene DOID:9005194 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES ISO RGD:1350944 D RGD:7240710 20190315 OMIM 11671435 PRUNE1 prune exopolyphosphatase 1 gene DOID:9005194 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES ISO RGD:1350944 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | ClinVar Annotator: match by term: PRUNE1-related condition PMID:25741868|PMID:26539891|PMID:28211990|PMID:28334956|PMID:28492532|PMID:29797509|PMID:29940663|PMID:30556349|PMID:33105479 11671435 PRUNE1 prune exopolyphosphatase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11671466 CCDC40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0050144 Kartagener syndrome ISO RGD:1605992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:16199547|PMID:21131974|PMID:22693285|PMID:23255504|PMID:25741868|PMID:28492532|PMID:31213628|PMID:31443223|PMID:31650533|PMID:31772028|PMID:31879361 11671466 CCDC40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0050439 Usher syndrome ISO RGD:1605992 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:25741868 11671466 CCDC40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0050439 Usher syndrome ISO RGD:1605992 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:25741868|PMID:28492532 11671466 CCDC40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0050545 visceral heterotaxy ISO RGD:1605992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 11671466 CCDC40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1605992 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11671466 CCDC40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0080545 hyper IgE syndrome ISO RGD:1605992 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive PMID:21131974|PMID:22693285|PMID:23255504|PMID:23891469|PMID:25741868|PMID:28492532 11671466 CCDC40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1605992 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS PMID:21131974|PMID:22693285|PMID:23255504|PMID:23891469|PMID:25741868|PMID:28492532 11671466 CCDC40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0110599 primary ciliary dyskinesia 3 ISO RGD:1605992 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 11671466 CCDC40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0110622 primary ciliary dyskinesia 9 ISO RGD:1605992 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis PMID:25741868|PMID:28492532 11671466 CCDC40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0110623 primary ciliary dyskinesia 15 ISO RGD:1605992 D RGD:7240710 20180130 OMIM 11671466 CCDC40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0110623 primary ciliary dyskinesia 15 ISO RGD:1605992 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: CCDC40-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 PMID:16199547|PMID:17576681|PMID:21131974|PMID:22499950|PMID:22693285|PMID:23255504|PMID:23261302|PMID:23891469|PMID:24033266|PMID:25619595|PMID:25741868|PMID:25877373|PMID:26228299|PMID:28492532|PMID:30067075|PMID:31213628|PMID:31443223|PMID:31507630|PMID:31589614|PMID:31650533|PMID:31772028|PMID:31879361|PMID:31980526|PMID:33715250|PMID:34768622|PMID:35626283|PMID:37260176|PMID:9536098 11671466 CCDC40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:12336 male infertility ISO RGD:1605992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility PMID:24033266|PMID:25741868|PMID:28492532 11671466 CCDC40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605992 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11671466 CCDC40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:2752 glycogen storage disease II ISO RGD:1605992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:18414213|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532 11671466 CCDC40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:758 situs inversus ISO RGD:1605992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 11671466 CCDC40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:9001828 Cardiac Form of Generalized Glycogenosis ISO RGD:1605992 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:18414213|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532 11671466 CCDC40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:9212 pityriasis rubra pilaris ISO RGD:1605992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 11671466 CCDC40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605992 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:18414213|PMID:21131974|PMID:22499950|PMID:22693285|PMID:23255504|PMID:23261302|PMID:23757202|PMID:23891469|PMID:24033266|PMID:24498942|PMID:24518672|PMID:25619595|PMID:25741868|PMID:25877373|PMID:26228299|PMID:28492532|PMID:30067075|PMID:31213628|PMID:31443223|PMID:31507630|PMID:31589614|PMID:31650533|PMID:31765523|PMID:31772028|PMID:31879361|PMID:31980526|PMID:32502479|PMID:33715250|PMID:34134972|PMID:34768622|PMID:35626283|PMID:9536098 11671494 MED9 mediator complex subunit 9 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1349775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 11671494 MED9 mediator complex subunit 9 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1349775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 11671494 MED9 mediator complex subunit 9 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1349775 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 11671494 MED9 mediator complex subunit 9 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1349775 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 11671494 MED9 mediator complex subunit 9 gene DOID:12849 autistic disorder ISO RGD:1349775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11671500 PRICKLE4 prickle planar cell polarity protein 4 gene DOID:0050444 infantile Refsum disease ISO RGD:1347495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11671500 PRICKLE4 prickle planar cell polarity protein 4 gene DOID:905 Zellweger syndrome ISO RGD:1347495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11671520 ENGASE endo-beta-N-acetylglucosaminidase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1601977 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11671520 ENGASE endo-beta-N-acetylglucosaminidase gene DOID:9212 pityriasis rubra pilaris ISO RGD:1601977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:0060041 autism spectrum disorder ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:0080143 congenital fibrosis of the extraocular muscles ISO RGD:1315674 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles PMID:25741868|PMID:39033378 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1315674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:0110266 cataract 9 multiple types ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:12849 autistic disorder ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:574 peripheral nervous system disease ISO RGD:1315674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:630 genetic disease ISO RGD:1315674 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:28633435|PMID:32202298|PMID:39033378|PMID:9536098 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:870 neuropathy ISO RGD:1315674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1315674 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:9002421 Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development ISO RGD:1315674 D RGD:7240710 20190315 OMIM 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:9002421 Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development ISO RGD:1315674 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: MCM3AP-related condition | ClinVar Annotator: match by term: Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development PMID:17576681|PMID:24123876|PMID:25741868|PMID:28492532|PMID:28633435|PMID:28969388|PMID:29982295|PMID:32202298|PMID:39033378|PMID:9536098 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:9263 homocystinuria ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11671547 MCM3AP minichromosome maintenance complex component 3 associated protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315674 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11671597 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:0050572 cone-rod dystrophy ISO RGD:1604537 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:36909829|PMID:9536098 11671597 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:0081447 cone-rod dystrophy 21 ISO RGD:1604537 D RGD:7240710 20180130 OMIM 11671597 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:0081447 cone-rod dystrophy 21 ISO RGD:1604537 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 21 PMID:25741868|PMID:25983245|PMID:28492532|PMID:32483926|PMID:35806404 11671597 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 11671597 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:12849 autistic disorder ISO RGD:1604537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11671597 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:630 genetic disease ISO RGD:1604537 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11671597 DRAM2 DNA damage regulated autophagy modulator 2 gene DOID:8501 fundus dystrophy ISO RGD:1604537 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:25741868|PMID:25983245|PMID:28492532|PMID:32483926|PMID:35806404 11671624 SRA1 steroid receptor RNA activator 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11671624 SRA1 steroid receptor RNA activator 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11671624 SRA1 steroid receptor RNA activator 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1353576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11671624 SRA1 steroid receptor RNA activator 1 gene DOID:3614 Kallmann syndrome ISO RGD:1353576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia 11671624 SRA1 steroid receptor RNA activator 1 gene DOID:6000 congestive heart failure severity ISO RGD:1353576 D RGD:9068941 20230401 RGD associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human) PMID:27317124|REF_RGD_ID:243048444 11671624 SRA1 steroid receptor RNA activator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11671624 SRA1 steroid receptor RNA activator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11671632 SFT2D2 SFT2 domain containing 2 gene DOID:0111942 immunodeficiency 25 ISO RGD:1605217 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 11671632 SFT2D2 SFT2 domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1605217 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11671632 SFT2D2 SFT2 domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605217 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11671662 ACP7 acid phosphatase 7, tartrate resistant (putative) gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1604436 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11671662 ACP7 acid phosphatase 7, tartrate resistant (putative) gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604436 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 11671679 LOC100977711 olfactory receptor 51E1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1344581 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 11671682 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:0060041 autism spectrum disorder ISO RGD:1314601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545|PMID:30504930 11671682 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1314601 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 11671682 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:11983 Prader-Willi syndrome ISO RGD:1314601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 11671682 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:12849 autistic disorder ISO RGD:1314601 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 11671682 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:1932 Angelman syndrome ISO RGD:1314601 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:23495136|PMID:24088041|PMID:25099823|PMID:25212744|PMID:25741868|PMID:25884337|PMID:26633545|PMID:28492532|PMID:38177409 11671682 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:5419 schizophrenia ISO RGD:1314601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11671682 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11671682 ATP10A ATPase phospholipid transporting 10A (putative) gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:1314601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:26950270|PMID:28053010|PMID:28492532 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:0080422 Dravet syndrome ISO RGD:1318809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:22279524|PMID:25500575|PMID:25741868|PMID:28492532|PMID:29390993 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:0090031 D-bifunctional protein deficiency ISO RGD:1318809 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DBP deficiency PMID:16385454|PMID:22279524|PMID:23035047|PMID:28492532 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:0111957 immunodeficiency 11A ISO RGD:1318809 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:23374270|PMID:23561803|PMID:26289640|PMID:28492532|PMID:32581362 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:0112361 spondylocostal dysostosis 3 ISO RGD:1318809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive PMID:28492532 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:1059 intellectual disability ISO RGD:1318809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:26467025|PMID:28492532 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:1826 epilepsy ISO RGD:1318809 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:630 genetic disease ISO RGD:1318809 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16452482|PMID:17576681|PMID:22279524|PMID:23035047|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26870756|PMID:26947546|PMID:27282546|PMID:27282648|PMID:27480663|PMID:28492532|PMID:28635423|PMID:28752061|PMID:30552426|PMID:31345272|PMID:31440721|PMID:32565546|PMID:32964447|PMID:34747546|PMID:35360849|PMID:9536098 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1318809 D RGD:7240710 20180130 OMIM 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1318809 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal PMID:16199547|PMID:16452482|PMID:17576681|PMID:22279524|PMID:23035047|PMID:25319849|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26870756|PMID:26947546|PMID:26964041|PMID:27282546|PMID:27282648|PMID:27480663|PMID:28492532|PMID:28635423|PMID:28752061|PMID:29375859|PMID:29390993|PMID:29431110|PMID:29997391|PMID:30552426|PMID:30786674|PMID:31345272|PMID:31440721|PMID:31618474|PMID:31868227|PMID:32139178|PMID:32565546|PMID:32600977|PMID:32964447|PMID:33040300|PMID:34747546|PMID:35360849|PMID:35620305|PMID:37344571|PMID:9536098 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318809 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16199547|PMID:22279524|PMID:25500575|PMID:25741868|PMID:28492532|PMID:31440721 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:9009220 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES ISO RGD:1318809 D RGD:7240710 20190315 OMIM 11671706 BRAT1 BRCA1 associated ATM activator 1 gene DOID:9009220 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES ISO RGD:1318809 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures PMID:16199547|PMID:16452482|PMID:22279524|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26947546|PMID:26964041|PMID:27282546|PMID:27282648|PMID:27480663|PMID:28492532|PMID:28635423|PMID:28752061|PMID:29375859|PMID:29390993|PMID:30552426|PMID:30786674|PMID:31345272|PMID:32964447|PMID:34747546|PMID:35360849 11671745 SPINDOC spindlin interactor and repressor of chromatin binding gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604233 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11671745 SPINDOC spindlin interactor and repressor of chromatin binding gene DOID:1059 intellectual disability ISO RGD:1604233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:0070129 autosomal recessive cutis laxa type IID ISO RGD:1323585 D RGD:7240710 20190315 OMIM 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:0070129 autosomal recessive cutis laxa type IID ISO RGD:1323585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID PMID:24459010|PMID:25741868|PMID:28065471|PMID:28492532 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1323585 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:25741868 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:0112275 developmental and epileptic encephalopathy 93 ISO RGD:1323585 D RGD:7240710 20190315 OMIM 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:0112275 developmental and epileptic encephalopathy 93 ISO RGD:1323585 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: ATP6V1A-related condition | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 93 PMID:17576681|PMID:23334411|PMID:25741868|PMID:28065471|PMID:28492532|PMID:29668857|PMID:35675510|PMID:9536098 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:630 genetic disease ISO RGD:1323585 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23334411|PMID:25741868|PMID:28065471|PMID:28492532|PMID:29668857 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1596464 D RGD:9068941 20241121 RGD protein:decreased expression:brain PMID:30307711|REF_RGD_ID:408426007 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1323585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:9008582 Developmental Disease ISO RGD:1323585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11671767 ATP6V1A ATPase H+ transporting V1 subunit A gene DOID:936 brain disease ISO RGD:1323585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 11671815 UBE2D2 ubiquitin conjugating enzyme E2 D2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:69475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 11671815 UBE2D2 ubiquitin conjugating enzyme E2 D2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:69475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11671815 UBE2D2 ubiquitin conjugating enzyme E2 D2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11671815 UBE2D2 ubiquitin conjugating enzyme E2 D2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11671833 DOP1B DOP1 leucine zipper like protein B gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1314515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 11671833 DOP1B DOP1 leucine zipper like protein B gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1314515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 11671833 DOP1B DOP1 leucine zipper like protein B gene DOID:0111995 immunodeficiency 28 ISO RGD:1314515 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:17237124|PMID:23512985|PMID:28492532 11671833 DOP1B DOP1 leucine zipper like protein B gene DOID:10126 keratoconus ISO RGD:1314515 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 11671833 DOP1B DOP1 leucine zipper like protein B gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1314515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 11671833 DOP1B DOP1 leucine zipper like protein B gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:1314515 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 PMID:17237124|PMID:18723428|PMID:23512985|PMID:24100448|PMID:28492532 11671889 TXNDC8 thioredoxin domain containing 8 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1345541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:28492532 11671889 TXNDC8 thioredoxin domain containing 8 gene DOID:12336 male infertility ISO RGD:1345541 D RGD:9068941 20200609 RGD protein:increased expression:sperm (human) PMID:15181017|REF_RGD_ID:1303999 11671903 GPR19 G protein-coupled receptor 19 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1344105 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 11671903 GPR19 G protein-coupled receptor 19 gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:1344105 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 PMID:28492532 11671916 UNC119 unc-119 lipid binding chaperone gene DOID:0050572 cone-rod dystrophy ISO RGD:1343859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11006213|PMID:22184408|PMID:24033266|PMID:25741868|PMID:28492532 11671916 UNC119 unc-119 lipid binding chaperone gene DOID:0081449 cone-rod dystrophy 24 ISO RGD:1343859 D RGD:7240710 20230505 OMIM 11671916 UNC119 unc-119 lipid binding chaperone gene DOID:0081449 cone-rod dystrophy 24 ISO RGD:1343859 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 24 PMID:11006213|PMID:25741868|PMID:26992781|PMID:28492532|PMID:35947183 11671916 UNC119 unc-119 lipid binding chaperone gene DOID:0111987 immunodeficiency 13 ISO RGD:1343859 D RGD:7240710 20200826 OMIM 11671916 UNC119 unc-119 lipid binding chaperone gene DOID:0111987 immunodeficiency 13 ISO RGD:1343859 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Immunodeficiency 13 | ClinVar Annotator: match by term: UNC119-related condition PMID:22184408|PMID:24033266|PMID:25741868|PMID:28005958|PMID:28492532 11671916 UNC119 unc-119 lipid binding chaperone gene DOID:10584 retinitis pigmentosa ISO RGD:1343859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11006213 11671916 UNC119 unc-119 lipid binding chaperone gene DOID:3109 idiopathic CD4-positive T-lymphocytopenia ISO RGD:1343859 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IDIOPATHIC CD4 LYMPHOPENIA PMID:22184408|PMID:24033266|PMID:25741868|PMID:28492532 11671916 UNC119 unc-119 lipid binding chaperone gene DOID:4448 macular degeneration ISO RGD:1343859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:26992781|PMID:35947183 11671924 LIPG lipase G, endothelial type gene DOID:1059 intellectual disability ISO RGD:1321819 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11671924 LIPG lipase G, endothelial type gene DOID:10763 hypertension ISO RGD:1310740 D RGD:9068941 20200609 RGD PMID:15914124|REF_RGD_ID:1581875 11671924 LIPG lipase G, endothelial type gene DOID:1287 cardiovascular system disease ISO RGD:1321819 D RGD:9068941 20200609 RGD PMID:16023652|REF_RGD_ID:1580864 11671924 LIPG lipase G, endothelial type gene DOID:2349 arteriosclerosis ISO RGD:1321820 D RGD:9068941 20200609 RGD PMID:15304490|REF_RGD_ID:1581874 11671924 LIPG lipase G, endothelial type gene DOID:3393 coronary artery disease ISO RGD:1321819 D RGD:9068941 20200609 RGD PMID:16354105|REF_RGD_ID:1580865 11671924 LIPG lipase G, endothelial type gene DOID:3526 cerebral infarction susceptibility ISO RGD:1321819 D RGD:9068941 20200609 RGD DNA:polymorphism: :584C>T (human) PMID:17016617|REF_RGD_ID:1601237 11671924 LIPG lipase G, endothelial type gene DOID:5844 myocardial infarction susceptibility ISO RGD:1321819 D RGD:9068941 20200609 RGD DNA:polymorphism: :584C>T (human) PMID:17526978|REF_RGD_ID:1641818 11671924 LIPG lipase G, endothelial type gene DOID:9006646 Metabolic Syndrome ISO RGD:1321819 D RGD:9068941 20200609 RGD PMID:16354105|REF_RGD_ID:1580865 11671924 LIPG lipase G, endothelial type gene DOID:9970 obesity ISO RGD:1321819 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16772345|REF_RGD_ID:1641819 11671964 STX10 syntaxin 10 gene DOID:0050858 Marshall-Smith syndrome ISO RGD:1353548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 11671964 STX10 syntaxin 10 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1353548 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:20097664|PMID:21183743|PMID:21454563|PMID:23831250|PMID:25274781|PMID:25735478|PMID:26814174|PMID:27250579|PMID:28007337|PMID:28492532|PMID:29184170|PMID:31139143 11671964 STX10 syntaxin 10 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1353548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11671964 STX10 syntaxin 10 gene DOID:0111254 glutaric acidemia I ISO RGD:1353548 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:21454563|PMID:25274781|PMID:25735478|PMID:27250579|PMID:28492532 11671964 STX10 syntaxin 10 gene DOID:3413 alpha-mannosidosis ISO RGD:1353548 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11671964 STX10 syntaxin 10 gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1353548 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:21454563|PMID:25274781|PMID:25735478|PMID:27250579|PMID:28492532 11671987 SUMF2 sulfatase modifying factor 2 gene DOID:0050441 mucosulfatidosis ISO RGD:1349479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple sulfatase deficiency PMID:12757706 11671987 SUMF2 sulfatase modifying factor 2 gene DOID:0050724 PSPH deficiency ISO RGD:1349479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:28492532 11671987 SUMF2 sulfatase modifying factor 2 gene DOID:12849 autistic disorder ISO RGD:1349479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11671987 SUMF2 sulfatase modifying factor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11672001 CAMK2N2 calcium/calmodulin dependent protein kinase II inhibitor 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:732268 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11672001 CAMK2N2 calcium/calmodulin dependent protein kinase II inhibitor 2 gene DOID:0080579 3-methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:732268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11672001 CAMK2N2 calcium/calmodulin dependent protein kinase II inhibitor 2 gene DOID:0111546 Currarino syndrome ISO RGD:732268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11672008 SAMD14 sterile alpha motif domain containing 14 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1602057 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:25741868|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 11672008 SAMD14 sterile alpha motif domain containing 14 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1602057 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 11672008 SAMD14 sterile alpha motif domain containing 14 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1602057 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:38922859 11672029 PRKX protein kinase cAMP-dependent X-linked catalytic subunit gene DOID:12849 autistic disorder ISO RGD:1353983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11672029 PRKX protein kinase cAMP-dependent X-linked catalytic subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11672045 PDGFRL platelet derived growth factor receptor like gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1317560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 11672045 PDGFRL platelet derived growth factor receptor like gene DOID:1520 colon carcinoma ISO RGD:1317560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:7898930 11672045 PDGFRL platelet derived growth factor receptor like gene DOID:684 hepatocellular carcinoma ISO RGD:1317560 D RGD:7240710 20180130 OMIM 11672045 PDGFRL platelet derived growth factor receptor like gene DOID:684 hepatocellular carcinoma ISO RGD:1317560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:7898930 11672045 PDGFRL platelet derived growth factor receptor like gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317560 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 11672045 PDGFRL platelet derived growth factor receptor like gene DOID:9256 colorectal cancer ISO RGD:1317560 D RGD:7240710 20200226 OMIM 11672084 PRELID3A PRELI domain containing 3A gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1315398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11672084 PRELID3A PRELI domain containing 3A gene DOID:1059 intellectual disability ISO RGD:1315398 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11672084 PRELID3A PRELI domain containing 3A gene DOID:543 dystonia ISO RGD:1315398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 11672100 MTHFS methenyltetrahydrofolate synthetase gene DOID:2717 Bloom syndrome ISO RGD:1315743 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11672100 MTHFS methenyltetrahydrofolate synthetase gene DOID:674 cleft palate ISO RGD:1315743 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 11672100 MTHFS methenyltetrahydrofolate synthetase gene DOID:9000512 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination ISO RGD:1315743 D RGD:7240710 20230505 OMIM 11672100 MTHFS methenyltetrahydrofolate synthetase gene DOID:9000512 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination ISO RGD:1315743 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MTHFS-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination PMID:25741868|PMID:28492532|PMID:30031689|PMID:31844630|PMID:35599849 11672100 MTHFS methenyltetrahydrofolate synthetase gene DOID:9256 colorectal cancer ISO RGD:1315743 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11672100 MTHFS methenyltetrahydrofolate synthetase gene DOID:9296 cleft lip ISO RGD:1315743 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 11672113 POU5F2 POU domain class 5, transcription factor 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11672113 POU5F2 POU domain class 5, transcription factor 2 gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:1606459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome PMID:24462372 11672113 POU5F2 POU domain class 5, transcription factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11672113 POU5F2 POU domain class 5, transcription factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11672118 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:0050741 alcohol dependence ISO RGD:735489 D RGD:9068941 20231012 RGD PMID:20077761|REF_RGD_ID:401827938 11672118 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:0060041 autism spectrum disorder ISO RGD:735489 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11672118 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:735489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 11672118 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:684 hepatocellular carcinoma ISO RGD:735489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11672118 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:71028 D RGD:9068941 20240330 RGD mRNA:decreased expression:liver (rat) PMID:22781937|REF_RGD_ID:405100969 11672118 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 11672118 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:9006302 Binge Drinking ISO RGD:71028 D RGD:9068941 20240328 RGD mRNA:altered exxpression:liver (rat) PMID:23413777|REF_RGD_ID:405100715 11672118 ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide gene DOID:9007081 Cluster Headache ISO RGD:735489 D RGD:9068941 20240321 RGD DNA:SNP:CDS (rs1800759, rs1126671) (human) PMID:24469609|REF_RGD_ID:405096434 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:0080284 developmental and epileptic encephalopathy 57 ISO RGD:1351112 D RGD:7240710 20190315 OMIM 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:0080284 developmental and epileptic encephalopathy 57 ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 57 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57 PMID:24166878|PMID:25741868|PMID:26724206|PMID:29069600|PMID:29314763|PMID:29740868|PMID:32038177|PMID:32773162 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:1826 epilepsy ISO RGD:1351112 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:32038177 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis PMID:32581362 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:630 genetic disease ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24166878|PMID:25741868|PMID:26724206|PMID:29069600|PMID:29314763|PMID:29740868|PMID:32773162 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: KCNT2-related condition PMID:25741868|PMID:29069600 11672138 KCNT2 potassium sodium-activated channel subfamily T member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11672176 E2F6 E2F transcription factor 6 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 11672176 E2F6 E2F transcription factor 6 gene DOID:5419 schizophrenia ISO RGD:1605732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11672176 E2F6 E2F transcription factor 6 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1605732 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35225430 11672198 LOC100971080 olfactory receptor 5F1 gene DOID:1059 intellectual disability ISO RGD:1351053 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Intellectual disability 11672200 RSF1 remodeling and spacing factor 1 gene DOID:1059 intellectual disability ISO RGD:1322599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11672227 PPIA peptidylprolyl isomerase A gene DOID:10763 hypertension ISO RGD:731273 D RGD:9068941 20210903 RGD mRNA:increased expression:alveolar system (human) PMID:32496587|REF_RGD_ID:150383342 11672227 PPIA peptidylprolyl isomerase A gene DOID:12506 Bell's palsy exacerbates ISO RGD:731273 D RGD:9068941 20210910 RGD protein:increased expression:blood serum (human) PMID:32149981|REF_RGD_ID:150429625 11672227 PPIA peptidylprolyl isomerase A gene DOID:1474 aggressive periodontitis ISO RGD:731273 D RGD:9068941 20210910 RGD protein:increased expression:gingiva (human) PMID:27176139|REF_RGD_ID:150429628 11672227 PPIA peptidylprolyl isomerase A gene DOID:1749 squamous cell carcinoma ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11672227 PPIA peptidylprolyl isomerase A gene DOID:1826 epilepsy ISO RGD:3372 D RGD:9068941 20200609 RGD PMID:20626060|REF_RGD_ID:4890972 11672227 PPIA peptidylprolyl isomerase A gene DOID:1883 hepatitis C ameliorates ISO RGD:11131 D RGD:9068941 20210910 RGD PMID:23903655|REF_RGD_ID:150429630 11672227 PPIA peptidylprolyl isomerase A gene DOID:3310 atopic dermatitis ISO RGD:731273 D RGD:9068941 20210903 RGD mRNA:increased expression:zone of skin (human) PMID:32496587|REF_RGD_ID:150383342 11672227 PPIA peptidylprolyl isomerase A gene DOID:3908 lung non-small cell carcinoma ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 11672227 PPIA peptidylprolyl isomerase A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11672227 PPIA peptidylprolyl isomerase A gene DOID:4947 cholangiocarcinoma ameliorates ISO RGD:731273 D RGD:9068941 20210910 RGD human cell line and construct in a mouse model PMID:21871105|REF_RGD_ID:150429623 11672227 PPIA peptidylprolyl isomerase A gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:731273 D RGD:9068941 20210903 RGD DNA:SNPs:promotor, intron 1: 1604C>G, 2653A>C (rs8177826, rs3735481) (human) PMID:17590083|REF_RGD_ID:150383341 11672227 PPIA peptidylprolyl isomerase A gene DOID:649 prion disease exacerbates ISO RGD:11131 D RGD:9068941 20210903 RGD PMID:31181281|REF_RGD_ID:150383343 11672227 PPIA peptidylprolyl isomerase A gene DOID:9000217 Stomach Neoplasms ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 11672227 PPIA peptidylprolyl isomerase A gene DOID:9000371 influenza A ameliorates ISO RGD:731273 D RGD:9068941 20210910 RGD human gene in a mouse model PMID:27354005|REF_RGD_ID:150429624 11672227 PPIA peptidylprolyl isomerase A gene DOID:9000469 Viral Myocarditis ameliorates ISO RGD:11131 D RGD:9068941 20210910 RGD associated with Coxsackievirus Infections PMID:22446162|REF_RGD_ID:150429627 11672227 PPIA peptidylprolyl isomerase A gene DOID:9000965 Neoplasm Metastasis ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21956400 11672227 PPIA peptidylprolyl isomerase A gene DOID:9004484 Sepsis treatment ISO RGD:11131 D RGD:9068941 20210910 RGD PMID:29680745|REF_RGD_ID:150429626 11672227 PPIA peptidylprolyl isomerase A gene DOID:9007364 Mouth Neoplasms ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 11672227 PPIA peptidylprolyl isomerase A gene DOID:9008225 Respirovirus Infections exacerbates ISO RGD:11131 D RGD:9068941 20210910 RGD PMID:28594325|REF_RGD_ID:150429629 11672227 PPIA peptidylprolyl isomerase A gene DOID:9261 nasopharynx carcinoma ISO RGD:731273 D RGD:9068941 20210910 RGD mRNA, protein:increased expression:blood serum, nasopharynx, extracellular exosome (human) PMID:31063269|REF_RGD_ID:150429622 11672227 PPIA peptidylprolyl isomerase A gene DOID:9970 obesity ISO RGD:731273 D RGD:9068941 20210903 RGD mRNA:increased expression:blood (human) PMID:32496587|REF_RGD_ID:150383342 11672236 CACUL1 CDK2 associated cullin domain 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:3082 interstitial lung disease ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:29979980 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:5082 liver cirrhosis ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Liver cirrhosis PMID:29979980 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:630 genetic disease ISO RGD:1348852 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:9001665 Aneurysm ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aneurysm PMID:29979980 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:9001942 Rajab Interstitial Lung Disease with Brain Calcifications ISO RGD:1348852 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications PMID:19161147|PMID:25741868|PMID:28492532|PMID:29573043|PMID:29979980|PMID:30014610|PMID:35937029 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:29573043 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:9006686 Rajab Interstitial Lung Disease with Brain Calcifications 1 ISO RGD:1348852 D RGD:7240710 20190315 OMIM 11672282 FARSB phenylalanyl-tRNA synthetase subunit beta gene DOID:9006686 Rajab Interstitial Lung Disease with Brain Calcifications 1 ISO RGD:1348852 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 PMID:19161147|PMID:25741868|PMID:28492532|PMID:29979980|PMID:30014610|PMID:35937029 11672303 CELF4 CUGBP Elav-like family member 4 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1316936 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:31690835 11672303 CELF4 CUGBP Elav-like family member 4 gene DOID:1059 intellectual disability ISO RGD:1316936 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11672303 CELF4 CUGBP Elav-like family member 4 gene DOID:2661 myoepithelioma ISO RGD:1316936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 11672303 CELF4 CUGBP Elav-like family member 4 gene DOID:630 genetic disease ISO RGD:1316936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14973222 11672303 CELF4 CUGBP Elav-like family member 4 gene DOID:9008582 Developmental Disease ISO RGD:1316936 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11672353 FBXO6 F-box protein 6 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1352122 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 11672353 FBXO6 F-box protein 6 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1352122 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11672353 FBXO6 F-box protein 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1352122 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11672353 FBXO6 F-box protein 6 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1352122 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0050952 spastic ataxia ISO RGD:731981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 ISO RGD:731981 D RGD:7240710 20250108 OMIM 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 ISO RGD:731981 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Generalized epilepsy and paroxysmal dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:15937479|PMID:16199547|PMID:16946189|PMID:17576681|PMID:18414213|PMID:19266219|PMID:20430843|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26195193|PMID:26467025|PMID:27567911|PMID:28492532|PMID:29330545|PMID:29356177|PMID:29545233|PMID:29738522|PMID:29778030|PMID:29933521|PMID:31069529|PMID:31152168|PMID:9536098 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0080600 COVID-19 ISO RGD:731981 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:1059 intellectual disability ISO RGD:731981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:19266219|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31152168 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:731981 D RGD:9068941 20200609 RGD DNA:SNP: :rs16934131 (human) PMID:21480501|REF_RGD_ID:10412025 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:11981 morbid obesity ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21708048 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:12849 autistic disorder ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16946189 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:1824 status epilepticus ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18695509 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:1826 epilepsy ISO RGD:731981 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:28492532 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:4450 renal cell carcinoma ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:630 genetic disease ISO RGD:731981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12366739|PMID:15184377|PMID:15194823|PMID:15937479|PMID:25741868|PMID:26195193|PMID:26467025|PMID:27567911|PMID:28383543|PMID:28492532|PMID:29330545|PMID:31152168|PMID:32132200 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:6432 pulmonary hypertension ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28090300 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9000099 Experimental Colitis ISO RGD:620715 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon PMID:23986198|REF_RGD_ID:10412026 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21695131 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9003251 CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES ISO RGD:731981 D RGD:7240710 20250108 OMIM 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9003251 CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES ISO RGD:731981 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures PMID:17576681|PMID:25741868|PMID:26467025|PMID:27567911|PMID:28492532|PMID:29545233|PMID:34224328|PMID:9536098 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9004657 Weight Gain ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27605626 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9004958 Idiopathic Generalized Epilepsy 16 ISO RGD:731981 D RGD:7240710 20250108 OMIM 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9004958 Idiopathic Generalized Epilepsy 16 ISO RGD:731981 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 16 PMID:25741868|PMID:28492532 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:731981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:731981 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:28492532 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620715 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:aorta, smooth muscle PMID:24589593|REF_RGD_ID:10412030 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9006257 Growth Disorders ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28242822 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008086 Developmental Disabilities ISO RGD:731981 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008539 Perinatal Death ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28242822 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008959 Liang-Wang Syndrome ISO RGD:731981 D RGD:7240710 20250108 OMIM 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008959 Liang-Wang Syndrome ISO RGD:731981 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Liang-Wang syndrome PMID:12366739|PMID:15184377|PMID:15194823|PMID:15937479|PMID:17576681|PMID:25741868|PMID:26195193|PMID:26467025|PMID:27567911|PMID:28383543|PMID:28492532|PMID:29330545|PMID:31069529|PMID:31152168|PMID:32132200|PMID:9536098 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15088113 11672384 KCNMA1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9970 obesity ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27605626 11672418 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1347044 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:27839872|PMID:32499604 11672418 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:0080613 anterior segment dysgenesis 8 ISO RGD:1347044 D RGD:7240710 20190315 OMIM 11672418 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:0080613 anterior segment dysgenesis 8 ISO RGD:1347044 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 8 | ClinVar Annotator: match by term: CPAMD8-related condition PMID:16199547|PMID:25741868|PMID:27839872|PMID:28492532|PMID:29556725|PMID:32499604 11672418 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:11211 buphthalmos ISO RGD:1347044 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A PMID:25741868 11672418 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:3007 breast ductal carcinoma ISO RGD:1347044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 11672418 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:3008 invasive ductal carcinoma ISO RGD:1347044 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Breast cancer, invasive ductal 11672418 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:630 genetic disease ISO RGD:1347044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11672418 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:9008296 Eye Abnormalities ISO RGD:1347044 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal anterior eye segment morphology PMID:25741868 11672418 CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 11672445 LOC100980025 putative G-protein coupled receptor GPR32P1 gene DOID:0060041 autism spectrum disorder ISO RGD:1343074 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11672449 SLC22A17 solute carrier family 22 member 17 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 11672449 SLC22A17 solute carrier family 22 member 17 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 11672449 SLC22A17 solute carrier family 22 member 17 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348088 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11672474 SEMA4B semaphorin 4B gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1317317 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:17407155|PMID:28492532 11672474 SEMA4B semaphorin 4B gene DOID:2717 Bloom syndrome ISO RGD:1317317 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:17407155|PMID:28492532 11672474 SEMA4B semaphorin 4B gene DOID:9256 colorectal cancer ISO RGD:1317317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1312950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0080690 RASopathy ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0111971 immunodeficiency 18 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0111972 immunodeficiency 19 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:0111973 immunodeficiency 17 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:1686 glaucoma ISO RGD:1312950 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:25741868 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:5419 schizophrenia ISO RGD:1312950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:9004657 Weight Gain ISO RGD:1312950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 11672498 ARHGEF12 Rho guanine nucleotide exchange factor 12 gene DOID:9007661 Dwarfism ISO RGD:1312950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11672548 FABP1 fatty acid binding protein 1 gene DOID:10763 hypertension ISO RGD:736881 D RGD:9068941 20200609 RGD protein:increased excretion:urine:possibly related to arteriosclerosis (MeSH:D001161) PMID:15830271|REF_RGD_ID:1626441 11672548 FABP1 fatty acid binding protein 1 gene DOID:12556 acute kidney tubular necrosis ISO RGD:736881 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18368030 11672548 FABP1 fatty acid binding protein 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:736881 D RGD:9068941 20200609 RGD protein:increased expression:urine (human) PMID:16118482|REF_RGD_ID:1578453 11672548 FABP1 fatty acid binding protein 1 gene DOID:783 end stage renal disease ISO RGD:736881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 11672548 FABP1 fatty acid binding protein 1 gene DOID:783 end stage renal disease ameliorates ISO RGD:2590 D RGD:9068941 20230914 RGD PMID:19878707|REF_RGD_ID:2326081 11672548 FABP1 fatty acid binding protein 1 gene DOID:9004590 Acute Liver Failure ISO RGD:736881 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 11672548 FABP1 fatty acid binding protein 1 gene DOID:9452 steatotic liver disease ISO RGD:10563 D RGD:9068941 20200609 RGD Western diet-induced hepatic steatosis; DNA:mutation::Fabp1 knockout mice PMID:17058218|REF_RGD_ID:1626440 11672548 FABP1 fatty acid binding protein 1 gene DOID:9455 lipid storage disease ISO RGD:736881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414 11672548 FABP1 fatty acid binding protein 1 gene DOID:9970 obesity ISO RGD:10563 D RGD:9068941 20200609 RGD Western diet-induced obesity; DNA:mutation::Fabp1 knockout mice PMID:17058218|REF_RGD_ID:1626440 11672556 LOC100983103 surfactant-associated protein 3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:3866 D RGD:9068941 20200702 RGD mRNA, protein:increased expression:lung PMID:17245593|REF_RGD_ID:1600158 11672562 PRR5L proline rich 5 like gene DOID:1059 intellectual disability ISO RGD:1605618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11672588 CMTM3 CKLF like MARVEL transmembrane domain containing 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1318724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11672588 CMTM3 CKLF like MARVEL transmembrane domain containing 3 gene DOID:0110255 cataract 5 multiple types ISO RGD:1318724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 11672588 CMTM3 CKLF like MARVEL transmembrane domain containing 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11672588 CMTM3 CKLF like MARVEL transmembrane domain containing 3 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1318724 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 11672597 GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1604590 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 11672597 GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 gene DOID:1059 intellectual disability ISO RGD:1604590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11672632 EFCAB10 EF-hand calcium binding domain 10 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:2301274 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25050558|PMID:25741868|PMID:28492532|PMID:32566746 11672632 EFCAB10 EF-hand calcium binding domain 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2301274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:25050558|PMID:25741868|PMID:26787654|PMID:27544226|PMID:28492532|PMID:31173646|PMID:31204009|PMID:32566746|PMID:33471991 11672632 EFCAB10 EF-hand calcium binding domain 10 gene DOID:9008663 Infantile Liver Failure Syndrome 3 ISO RGD:2301274 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome 3 | ClinVar Annotator: match by term: RINT1-related condition PMID:24033266|PMID:25050558|PMID:25741868|PMID:26787654|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:737471 D RGD:7240710 20180130 OMIM 11672668 NF1 neurofibromin 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:737471 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:10076878|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11704931|PMID:11726231|PMID:11735023|PMID:11857752|PMID:12095621|PMID:12112660|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12687660|PMID:12807981|PMID:12822827|PMID:12872266|PMID:14517963|PMID:14569132|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523642|PMID:1568246|PMID:1568247|PMID:15846561|PMID:16199547|PMID:16380919|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17114577|PMID:17160901|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17406642|PMID:17426081|PMID:17551851|PMID:1757093|PMID:17576681|PMID:1783401|PMID:17889038|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18546366|PMID:18800150|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19738042|PMID:19845691|PMID:19935827|PMID:20301288|PMID:20601955|PMID:20602485|PMID:21089070|PMID:2114220|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21520333|PMID:21532985|PMID:21838856|PMID:22034633|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22608206|PMID:22703879|PMID:22807134|PMID:22925204|PMID:22965773|PMID:23047742|PMID:23244495|PMID:23404336|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23781326|PMID:23913538|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24654934|PMID:24694336|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24922668|PMID:24932921|PMID:25074460|PMID:25240281|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25541118|PMID:25624686|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25925892|PMID:25966637|PMID:26056819|PMID:26088551|PMID:26178382|PMID:26467025|PMID:26478990|PMID:26509978|PMID:26514327|PMID:26635368|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26962827|PMID:26969325|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27322474|PMID:27716896|PMID:27838393|PMID:27980226|PMID:28008555|PMID:28068329|PMID:28135719|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28548933|PMID:28706617|PMID:28873162|PMID:28961165|PMID:28976792|PMID:29089047|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29522274|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29784605|PMID:29849115|PMID:29872168|PMID:29914388|PMID:29926981|PMID:30014477|PMID:30124220|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30308447|PMID:30530636|PMID:30613976|PMID:31159747|PMID:31160754|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31443423|PMID:31476437|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31617914|PMID:31713330|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31882575|PMID:32005694|PMID:32056211|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32352596|PMID:32461654|PMID:32533764|PMID:32566746|PMID:32575496|PMID:32581362|PMID:32873259|PMID:32980694|PMID:33046013|PMID:33210232|PMID:33372952|PMID:33471991|PMID:33540839|PMID:33674644|PMID:33804961|PMID:33877690|PMID:33919865|PMID:34080803|PMID:34374989|PMID:34418705|PMID:34427956|PMID:34694046|PMID:34860164|PMID:34988040|PMID:35698239|PMID:35885913|PMID:36061378|PMID:36988593|PMID:37012328|PMID:37149759|PMID:37751797|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8664912|PMID:8669813|PMID:8829638|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219873|PMID:9298829|PMID:9385374 11672668 NF1 neurofibromin 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:737471 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:9463322|PMID:9475595|PMID:9536098|PMID:9639526|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:737471 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:21390130|PMID:22158541|PMID:23292937 11672668 NF1 neurofibromin 1 gene DOID:0050771 pheochromocytoma ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:11857752|PMID:12095621|PMID:14722917|PMID:1568247|PMID:16380919|PMID:16513807|PMID:16786508|PMID:18546366|PMID:22155606|PMID:22807134|PMID:23244495|PMID:24033266|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26840085|PMID:27322474|PMID:27716896|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29673180|PMID:31595648|PMID:32107864|PMID:8264648|PMID:8499944|PMID:8499945|PMID:8669813|PMID:9003501|PMID:9219873 11672668 NF1 neurofibromin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737471 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:28492532|PMID:30763456 11672668 NF1 neurofibromin 1 gene DOID:0060320 inguinal hernia ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:10712197|PMID:23656349|PMID:23913538|PMID:25741868|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:0060372 Parkinson's disease 15 ISO RGD:737471 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Parkinson disease 15 PMID:25741868|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:0070482 spinal neurofibromatosis ISO RGD:737471 D RGD:7240710 20180130 OMIM 11672668 NF1 neurofibromin 1 gene DOID:0070482 spinal neurofibromatosis ISO RGD:737471 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, familial spinal PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11704931|PMID:11735023|PMID:11857752|PMID:12095621|PMID:12112660|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12807981|PMID:12872266|PMID:14517963|PMID:14569132|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:1568246|PMID:1568247|PMID:15858190|PMID:15863657|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16380919|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17160901|PMID:17295913|PMID:17311297|PMID:17426081|PMID:1745350|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18546366|PMID:18800150|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19935827|PMID:20301288|PMID:20601955|PMID:20602485|PMID:20605257|PMID:21031597|PMID:2114220|PMID:21280148|PMID:21354044|PMID:21512413|PMID:21520333|PMID:21532985|PMID:21732117|PMID:22034633|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22207399|PMID:22703879|PMID:22807134|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23047742|PMID:23244495|PMID:23407919|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23781326|PMID:23812910|PMID:23906300|PMID:23913538|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24654934|PMID:24676943|PMID:24694336|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25525159|PMID:25541118|PMID:25741868|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26580448|PMID:26635368|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26962827|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:27716896|PMID:27793025|PMID:27838393|PMID:28135719|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28976792|PMID:29082380|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29522274|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29758562|PMID:29872168|PMID:29908077|PMID:29926981|PMID:30014477|PMID:30087692|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30877234|PMID:31159747|PMID:31160754|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31617914|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31882575|PMID:31891871|PMID:32107864|PMID:32126153|PMID:32461654|PMID:32566746|PMID:32980694|PMID:33046013|PMID:33322618|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33674644|PMID:33840814|PMID:34080803|PMID:34418705|PMID:34427956|PMID:34782607|PMID:35024939|PMID:35264596|PMID:35885913|PMID:36061378|PMID:36988593|PMID:7542886|PMID:7607663|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8669813|PMID:8829638|PMID:8837715|PMID:8845843|PMID:9003501|PMID:9042399|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9219873|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9529361|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:0070483 Watson syndrome ISO RGD:737471 D RGD:7240710 20180130 OMIM 11672668 NF1 neurofibromin 1 gene DOID:0070483 Watson syndrome ISO RGD:737471 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11857752|PMID:12095621|PMID:12112660|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12807981|PMID:1302608|PMID:14569132|PMID:14722917|PMID:15060124|PMID:15146469|PMID:15207265|PMID:15523626|PMID:1568246|PMID:1568247|PMID:15846561|PMID:15863657|PMID:16138229|PMID:16199547|PMID:16380919|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16835897|PMID:16870183|PMID:16941471|PMID:16944272|PMID:17160901|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17406642|PMID:17426081|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18546366|PMID:18800150|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19935827|PMID:20301288|PMID:20601955|PMID:20602485|PMID:20844836|PMID:2114220|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21520333|PMID:21532985|PMID:22034633|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22703879|PMID:22807134|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23781326|PMID:23913538|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24654934|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25525159|PMID:25541118|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26467025|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26580448|PMID:26635368|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26962827|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:27716896|PMID:27793025|PMID:27838393|PMID:28068329|PMID:28135719|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28976792|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29522274|PMID:29618358|PMID:29673180|PMID:29684080|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30613976|PMID:30632835|PMID:30877234|PMID:31159747|PMID:31160754|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31476437|PMID:31533651|PMID:31533797|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31882575|PMID:31891871|PMID:32005694|PMID:32056211|PMID:32107864|PMID:32461654|PMID:32533764|PMID:32566746|PMID:32581362|PMID:32980694|PMID:33046013|PMID:33322618|PMID:33372952|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33877690|PMID:34080803|PMID:34374989|PMID:34418705|PMID:34427956|PMID:34694046|PMID:35885913|PMID:36061378|PMID:36988593|PMID:7607663|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:8069310|PMID:8264648|PMID:8317503|PMID:8385067|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8669813|PMID:8834249|PMID:8845843|PMID:9003501|PMID:9042399|PMID:9180088|PMID:9219873|PMID:9385374|PMID:9463322|PMID:9536098|PMID:9654211|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:0080199 colorectal carcinoma severity ISO RGD:737471 D RGD:9068941 20210917 RGD protein:increased expression:colorectum (human) PMID:27798892|REF_RGD_ID:150429697 11672668 NF1 neurofibromin 1 gene DOID:0080638 B-cell acute lymphoblastic leukemia ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia PMID:17576681|PMID:23656349|PMID:25741868|PMID:28492532|PMID:9536098 11672668 NF1 neurofibromin 1 gene DOID:0080690 RASopathy ISO RGD:737471 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10712197|PMID:16199547|PMID:23913538|PMID:24789688|PMID:25741868|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:0080875 IDH-mutant anaplastic astrocytoma ISO RGD:737471 D RGD:8554872 20240123 ClinVar ClinVar Annotator: match by term: Astrocytoma IDH-mutant PMID:25741868|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:737471 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:25741868|PMID:26740943|PMID:28492532|PMID:31882575 11672668 NF1 neurofibromin 1 gene DOID:0110131 Bardet-Biedl syndrome 9 ISO RGD:737471 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 9 PMID:10712197|PMID:25741868|PMID:28492532|PMID:31766501 11672668 NF1 neurofibromin 1 gene DOID:0111222 centronuclear myopathy 5 ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 5 PMID:10862084|PMID:12552569|PMID:15060124|PMID:15863657|PMID:16944272|PMID:17726231|PMID:24033266|PMID:25741868|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:7240710 20180130 OMIM 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20231024 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:10076878|PMID:10090487|PMID:10220149|PMID:10336779|PMID:10451518|PMID:10494088|PMID:10534774|PMID:10543400|PMID:10587576|PMID:10607834|PMID:10631140|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11726231|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12403553|PMID:12438263|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12624144|PMID:12687660|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12808981|PMID:12822827|PMID:12872266|PMID:1302608|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14605872|PMID:14635100|PMID:14722914|PMID:14722917|PMID:1483690|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15257518|PMID:15338462|PMID:15520408|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15858190|PMID:15863657|PMID:1587809|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16380919|PMID:16397625|PMID:16405917|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16787982|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:1719426|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17889038|PMID:17914445|PMID:17960768|PMID:18000842|PMID:18021924|PMID:18041031|PMID:18055911|PMID:18183042|PMID:18183640|PMID:18196300|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:1937470|PMID:19449407|PMID:19665063|PMID:19738042|PMID:19763152|PMID:19785027|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20229272|PMID:20301288|PMID:20307669|PMID:20358387|PMID:20513137|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:2152033|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21618341|PMID:21732117|PMID:21822264|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22159552|PMID:22190595|PMID:22207399|PMID:22222937|PMID:22241097|PMID:22406018|PMID:22608206|PMID:22617876|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22837079|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23175693|PMID:23222849|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23417386|PMID:23460398|PMID:23532973|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:2411134|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24451118|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:24958239|PMID:25074460|PMID:25156439|PMID:25166435|PMID:25205021|PMID:25211147|PMID:25234363|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25520849|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25624686|PMID:25631097|PMID:25640679|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25834617|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26017449 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26189818|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26822949|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27234610|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27629806|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27959697|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28924536|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29625052|PMID:29673180|PMID:29680440|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30098238|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30124220|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30828344|PMID:30877234|PMID:30977107|PMID:31031587|PMID:31048186|PMID:31066482|PMID:31130284|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31397088|PMID:31422574|PMID:31443423|PMID:31476437|PMID:31507634|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31690835|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31868168|PMID:31874108|PMID:31882575|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32552793|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32582540|PMID:32761593|PMID:32860008|PMID:32873259|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33794220|PMID:33804961|PMID:33877690|PMID:33911094|PMID:33919865|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34439939|PMID:34489640|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34887559|PMID:34906502|PMID:34988040|PMID:35024939|PMID:35039564|PMID:35066574|PMID:35091509|PMID:35101336|PMID:35240321|PMID:35264596|PMID:35353986|PMID:35836575|PMID:35885913|PMID:36243179|PMID:36988593|PMID:4633999|PMID:7311297|PMID:7581973|PMID:7586657|PMID:7607663|PMID:7633431|PMID:7643367|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8034304|PMID:8069310|PMID:8069315|PMID:8081387|PMID:8099055|PMID:8116612|PMID:8118468|PMID:8242079|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8931693|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9101303|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9177273|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9452037|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:9639526|PMID:9643287|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26189818|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26822949|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27234610|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27629806|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27959697|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28924536|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29625052|PMID:29673180|PMID:29680440|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30098238|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30124220|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30828344|PMID:30877234|PMID:30977107|PMID:31031587|PMID:31048186|PMID:31066482|PMID:31130284|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31397088|PMID:31422574|PMID:31443423|PMID:31476437|PMID:31507634|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31690835|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31868168|PMID:31874108|PMID:31882575|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32552793|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32582540|PMID:32761593|PMID:32860008|PMID:32873259|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33794220|PMID:33804961|PMID:33877690|PMID:33911094|PMID:33919865|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34439939|PMID:34489640|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34887559|PMID:34906502|PMID:34988040|PMID:34992632|PMID:35024939|PMID:35039564|PMID:35066574|PMID:35091509|PMID:35101336|PMID:35240321|PMID:35264596|PMID:35353986|PMID:35836575|PMID:35885913|PMID:36243179|PMID:36988593|PMID:37149759|PMID:4633999|PMID:7311297|PMID:7581973|PMID:7586657|PMID:7607663|PMID:7633431|PMID:7643367|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8034304|PMID:8069310|PMID:8069315|PMID:8081387|PMID:8099055|PMID:8116612|PMID:8118468|PMID:8242079|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8931693|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9101303|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9177273|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9452037|PMID:9463322|PMID:9475595|PMID:9536098 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:9544853|PMID:9545275|PMID:9639526|PMID:9643287|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:10076878|PMID:10090487|PMID:10220149|PMID:10336779|PMID:10451518|PMID:10494088|PMID:10534774|PMID:10543400|PMID:10587576|PMID:10607834|PMID:10631140|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11726231|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12403553|PMID:12438263|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12624144|PMID:12687660|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12808981|PMID:12822827|PMID:12872266|PMID:1302608|PMID:1370276|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14605872|PMID:14635100|PMID:14722914|PMID:14722917|PMID:1483690|PMID:1506012|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15257518|PMID:15338462|PMID:15520408|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15858190|PMID:15863657|PMID:1587809|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16405917|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16787982|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:1719426|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17889038|PMID:17914445|PMID:17960768|PMID:18000842|PMID:18021924|PMID:18041031|PMID:18055911|PMID:18183042|PMID:18183640|PMID:18196300|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:1937470|PMID:19449407|PMID:19665063|PMID:19738042|PMID:19763152|PMID:19785027|PMID:19823873|PMID:19845691|PMID:19920235|PMID:19935827|PMID:20015894|PMID:20186797|PMID:20229272|PMID:20301288|PMID:20307669|PMID:20358387|PMID:20513137|PMID:20601955|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:2152033|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21618341|PMID:21732117|PMID:21822264|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22159552|PMID:22190595|PMID:22207399|PMID:22222937|PMID:22241097|PMID:22406018|PMID:22608206|PMID:22617876|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22837079|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23175693|PMID:23222849|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23417386|PMID:23460398|PMID:23532973|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23781326|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:2411134|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24418705|PMID:24448499|PMID:24451118|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:2480366|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:24958239|PMID:25049390|PMID:25074460|PMID:25156439|PMID:25166435|PMID:25205021|PMID:25211147|PMID:25234363|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25520849|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25624686|PMID:25631097|PMID:25640679|PMID:25733387|PMID:25741868|PMID:25788518 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis PMID:25810463|PMID:25834617|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26017449|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26189818|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26822949|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27234610|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27629806|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27959697|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28135719|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28924536|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29068549|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29281626|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29625052|PMID:29673180|PMID:29680440|PMID:29684080|PMID:29685074|PMID:29758562|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30098238|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30124220|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30602027|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30828344|PMID:30877234|PMID:30977107|PMID:31031587|PMID:31048186|PMID:31066482|PMID:31130284|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31397088|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31507634|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31690835|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31868168|PMID:31874108|PMID:31882575|PMID:31891871|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32369273|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32552793|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32582540|PMID:32761593|PMID:32860008|PMID:32873259|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33210232|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33794220|PMID:33804961|PMID:33877690|PMID:33911094|PMID:33919865|PMID:33999308|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34308366|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34439939|PMID:34489640|PMID:34589056|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34887559|PMID:34906502|PMID:34988040|PMID:34992632|PMID:35024939|PMID:35039564|PMID:35066574|PMID:35091509|PMID:35101336|PMID:35240321|PMID:35264596|PMID:35353986|PMID:35698239|PMID:35836575|PMID:35885913|PMID:36243179|PMID:36988593|PMID:37149759|PMID:4633999|PMID:7311297|PMID:7542886|PMID:7581973|PMID:7586657|PMID:7607663|PMID:7633431|PMID:7643367|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8034304|PMID:8069310|PMID:8069315|PMID:8081387|PMID:8099055|PMID:8116612|PMID:8118468|PMID:8242079|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis PMID:8834249|PMID:8837715|PMID:8845843|PMID:8931693|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9101303|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9177273|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9452037|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9639526|PMID:9643287|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8931693|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9101303|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9177273|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9452037|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9639526|PMID:9643287|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:25810463|PMID:25834617|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26017449|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26189818|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26822949|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27234610|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27629806|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27854218|PMID:27862945|PMID:27959697|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28135719|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28924536|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29068549|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29281626|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29625052|PMID:29673180|PMID:29680440|PMID:29684080|PMID:29685074|PMID:29758562|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30098238|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30124220|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30544257|PMID:30602027|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30828344|PMID:30877234|PMID:30977107|PMID:31031587|PMID:31048186|PMID:31066482|PMID:31130284|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31397088|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31507634|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31690835|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31868168|PMID:31874108|PMID:31882575|PMID:31891871|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32359129|PMID:32368696|PMID:32369273|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32552793|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32582540|PMID:32761593|PMID:32860008|PMID:32873259|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33210232|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33794220|PMID:33804961|PMID:33840814|PMID:33877690|PMID:33911094|PMID:33919865|PMID:33965620|PMID:33999308|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34308366|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34439939|PMID:34489640|PMID:34589056|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34868260|PMID:34887559|PMID:34906502|PMID:34988040|PMID:34992632|PMID:35024939|PMID:35039564|PMID:35066574|PMID:35091509|PMID:35101336|PMID:35240321|PMID:35264596|PMID:35353986|PMID:35698239|PMID:35836575|PMID:35885913|PMID:36243179|PMID:36672847|PMID:36988593|PMID:37149759|PMID:4633999|PMID:7311297|PMID:7542886|PMID:7581973|PMID:7586657|PMID:7607663|PMID:7633431|PMID:7643367|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8034304|PMID:8069310|PMID:8069315|PMID:8081387|PMID:8099055|PMID:8116612|PMID:8118468|PMID:8242079|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: NEUROFIBROMATOSIS, TYPE I | ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:10076878|PMID:10090487|PMID:10220149|PMID:10336779|PMID:10451518|PMID:10494088|PMID:10534774|PMID:10543400|PMID:10587576|PMID:10607834|PMID:10631140|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11726231|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12403553|PMID:12438263|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12624144|PMID:12687660|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12808981|PMID:12822827|PMID:12872266|PMID:1302608|PMID:1370276|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14605872|PMID:14635100|PMID:14722914|PMID:14722917|PMID:1483690|PMID:1506012|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15257518|PMID:15338462|PMID:15520408|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15858190|PMID:15863657|PMID:1587809|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16405917|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16787982|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:1719426|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17889038|PMID:17914445|PMID:17960768|PMID:18000842|PMID:18021924|PMID:18041031|PMID:18055911|PMID:18183042|PMID:18183640|PMID:18196300|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:1937470|PMID:19449407|PMID:19665063|PMID:19738042|PMID:19763152|PMID:19785027|PMID:19823873|PMID:19845691|PMID:19920235|PMID:19935827|PMID:20015894|PMID:20186797|PMID:20229272|PMID:20301288|PMID:20307669|PMID:20358387|PMID:20513137|PMID:20601955|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:2152033|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21618341|PMID:21732117|PMID:21822264|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22159552|PMID:22190595|PMID:22207399|PMID:22222937|PMID:22241097|PMID:22406018|PMID:22608206|PMID:22617876|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22837079|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23175693|PMID:23222849|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23417386|PMID:23460398|PMID:23532973|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23781326|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:2411134|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24418705|PMID:24448499|PMID:24451118|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:2480366|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:24958239|PMID:25049390|PMID:25074460|PMID:25156439|PMID:25166435|PMID:25205021|PMID:25211147|PMID:25234363|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25520849|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25624686|PMID:25631097|PMID:25640679|PMID:25733387|PMID:25741868|PMID:25788518 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: NEUROFIBROMATOSIS, TYPE I | ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:25810463|PMID:25834617|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26017449|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26189818|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26822949|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27234610|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27629806|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27959697|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28135719|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28924536|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29068549|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29281626|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29625052|PMID:29673180|PMID:29680440|PMID:29684080|PMID:29685074|PMID:29758562|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30098238|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30124220|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30544257|PMID:30602027|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30828344|PMID:30877234|PMID:30977107|PMID:31031587|PMID:31048186|PMID:31066482|PMID:31130284|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31397088|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31507634|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31690835|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31868168|PMID:31874108|PMID:31882575|PMID:31891871|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32359129|PMID:32368696|PMID:32369273|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32552793|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32582540|PMID:32761593|PMID:32860008|PMID:32873259|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33210232|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33794220|PMID:33804961|PMID:33840814|PMID:33877690|PMID:33911094|PMID:33919865|PMID:33965620|PMID:33999308|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34308366|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34439939|PMID:34489640|PMID:34589056|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34868260|PMID:34887559|PMID:34906502|PMID:34988040|PMID:34992632|PMID:35024939|PMID:35039564|PMID:35066574|PMID:35091509|PMID:35101336|PMID:35240321|PMID:35264596|PMID:35353986|PMID:35698239|PMID:35836575|PMID:35885913|PMID:36243179|PMID:36672847|PMID:36988593|PMID:37149759|PMID:4633999|PMID:7311297|PMID:7542886|PMID:7581973|PMID:7586657|PMID:7607663|PMID:7633431|PMID:7643367|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8034304|PMID:8069310|PMID:8069315|PMID:8081387|PMID:8099055|PMID:8116612|PMID:8118468|PMID:8242079|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: NEUROFIBROMATOSIS, TYPE I | ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8931693|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9101303|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9177273|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9452037|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9639526|PMID:9643287|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: NEUROFIBROMATOSIS, TYPE I | ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:10076878|PMID:10090487|PMID:10220149|PMID:10336779|PMID:10451518|PMID:10494088|PMID:10534774|PMID:10543400|PMID:10587576|PMID:10607834|PMID:10631140|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11726231|PMID:11735023|PMID:11857752|PMID:12095621|PMID:12112660|PMID:12403553|PMID:12438263|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12624144|PMID:12687660|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12808981|PMID:12822827|PMID:12872266|PMID:1302608|PMID:1370276|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14605872|PMID:14635100|PMID:14722914|PMID:14722917|PMID:1483690|PMID:1506012|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15257518|PMID:15338462|PMID:15520408|PMID:15523626|PMID:15523642|PMID:1568246|PMID:1568247|PMID:15846561|PMID:15858190|PMID:15863657|PMID:1587809|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16405917|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16787982|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:1719426|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17889038|PMID:17914445|PMID:17960768|PMID:18000842|PMID:18041031|PMID:18055911|PMID:18183042|PMID:18183640|PMID:18196300|PMID:18484666|PMID:18546366|PMID:18800150|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:1937470|PMID:19449407|PMID:19665063|PMID:19738042|PMID:19763152|PMID:19785027|PMID:19845691|PMID:19935827|PMID:20015894|PMID:20186797|PMID:20229272|PMID:20301288|PMID:20307669|PMID:20358387|PMID:20513137|PMID:20601955|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:2152033|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21618341|PMID:21732117|PMID:21822264|PMID:21838856|PMID:22034633|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22159552|PMID:22190595|PMID:22207399|PMID:22222937|PMID:22241097|PMID:22406018|PMID:22608206|PMID:22617876|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22837079|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23175693|PMID:23222849|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23417386|PMID:23460398|PMID:23532973|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23781326|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:2411134|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24418705|PMID:24448499|PMID:24451118|PMID:24654934|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24711935|PMID:24728327|PMID:24789688|PMID:2480366|PMID:24803665|PMID:24922668|PMID:24932921|PMID:24951259|PMID:24958239|PMID:25049390|PMID:25074460|PMID:25156439|PMID:25166435|PMID:25205021|PMID:25211147|PMID:25234363|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25520849|PMID:25525159|PMID:25541118|PMID:25612910|PMID:25624686|PMID:25631097|PMID:25640679|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25834617|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26189818|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26822949|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27234610|PMID:27305697|PMID:27322474|PMID:27482814|PMID:27617404|PMID:27629806|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27959697|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28135719|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28924536|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29068549|PMID:29082380|PMID:29089047|PMID:29146900|PMID:29281626|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29625052|PMID:29673180|PMID:29680440|PMID:29684080|PMID:29685074|PMID:29758562|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30087692|PMID:30093976|PMID:30098238|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30124220|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30544257|PMID:30602027|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30828344|PMID:30877234|PMID:30977107|PMID:31031587|PMID:31048186|PMID:31066482|PMID:31130284|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31397088|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31507634|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31690835|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31868168|PMID:31874108|PMID:31882575|PMID:31891871|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32359129|PMID:32368696|PMID:32369273|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32552793|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32761593|PMID:32860008|PMID:32873259|PMID:32980694|PMID:33046013|PMID:33121128|PMID:33210232|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33794220|PMID:33804961|PMID:33840814|PMID:33877690|PMID:33911094|PMID:33919865|PMID:33965620|PMID:33999308|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34308366|PMID:34418705|PMID:34427956|PMID:34439939|PMID:34489640|PMID:34589056|PMID:34598035|PMID:34694046|PMID:34782607|PMID:34868260|PMID:34887559|PMID:34906502|PMID:34988040|PMID:34992632|PMID:35024939|PMID:35039564|PMID:35066574|PMID:35101336|PMID:35240321|PMID:35264596|PMID:35698239|PMID:35836575|PMID:35885913|PMID:36243179|PMID:36672847|PMID:36988593|PMID:37149759|PMID:4633999|PMID:7542886|PMID:7581973|PMID:7586657|PMID:7607663|PMID:7633431|PMID:7643367|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8034304|PMID:8069310|PMID:8069315|PMID:8081387|PMID:8099055|PMID:8116612|PMID:8118468|PMID:8242079|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8931693|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9101303|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9177273|PMID:9180088|PMID:9195229|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9452037|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9639526|PMID:9643287|PMID:9654211|PMID:9668168|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis PMID:10076878|PMID:10090487|PMID:10220149|PMID:10336779|PMID:10451518|PMID:10494088|PMID:10534774|PMID:10543400|PMID:10587576|PMID:10607834|PMID:10631140|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11726231|PMID:11735023|PMID:11857752|PMID:12095621|PMID:12112660|PMID:12403553|PMID:12438263|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12624144|PMID:12687660|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12808981|PMID:12822827|PMID:12872266|PMID:1302608|PMID:1370276|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14605872|PMID:14635100|PMID:14722914|PMID:14722917|PMID:1483690|PMID:1506012|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15257518|PMID:15338462|PMID:15520408|PMID:15523626|PMID:15523642|PMID:1568246|PMID:1568247|PMID:15846561|PMID:15858190|PMID:15863657|PMID:1587809|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16405917|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16787982|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:1719426|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17889038|PMID:17914445|PMID:17960768|PMID:18000842|PMID:18041031|PMID:18055911|PMID:18183042|PMID:18183640|PMID:18196300|PMID:18484666|PMID:18546366|PMID:18800150|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:1937470|PMID:19449407|PMID:19665063|PMID:19738042|PMID:19763152|PMID:19785027|PMID:19845691|PMID:19935827|PMID:20015894|PMID:20186797|PMID:20229272|PMID:20301288|PMID:20307669|PMID:20358387|PMID:20513137|PMID:20601955|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21270786|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:2152033|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21618341|PMID:21732117|PMID:21822264|PMID:21838856|PMID:22034633|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22159552|PMID:22190595|PMID:22207399|PMID:22222937|PMID:22241097|PMID:22406018|PMID:22608206|PMID:22617876|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22837079|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23175693|PMID:23222849|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23417386|PMID:23460398|PMID:23532973|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23781326|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:2411134|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24418705|PMID:24448499|PMID:24451118|PMID:24654934|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24711935|PMID:24728327|PMID:24789688|PMID:2480366|PMID:24803665|PMID:24922668|PMID:24932921|PMID:24951259|PMID:24958239|PMID:25049390|PMID:25074460|PMID:25156439|PMID:25166435|PMID:25205021|PMID:25211147|PMID:25234363|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25520849|PMID:25525159|PMID:25541118|PMID:25612910|PMID:25624686|PMID:25631097|PMID:25640679|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25834617|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:25974703|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26189818|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26822949|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27234610|PMID:27305697|PMID:27322474|PMID:27482814|PMID:27617404|PMID:27629806|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27959697|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28135719|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28924536|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29068549|PMID:29082380|PMID:29089047|PMID:29146900|PMID:29281626|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29625052|PMID:29673180|PMID:29680440|PMID:29684080|PMID:29685074|PMID:29758562|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30087692|PMID:30093976|PMID:30098238|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30124220|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30544257|PMID:30602027|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30828344|PMID:30877234|PMID:30977107|PMID:31031587|PMID:31048186|PMID:31066482|PMID:31130284|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31397088|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31507634|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31690835|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31868168|PMID:31874108|PMID:31882575|PMID:31891871|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32359129|PMID:32368696|PMID:32369273|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32552793|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32761593|PMID:32860008|PMID:32873259|PMID:32980694|PMID:33046013|PMID:33121128|PMID:33210232|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33794220|PMID:33804961|PMID:33840814|PMID:33877690|PMID:33911094|PMID:33919865|PMID:33965620|PMID:33999308|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34308366|PMID:34418705|PMID:34427956|PMID:34439939|PMID:34489640|PMID:34589056|PMID:34598035|PMID:34694046|PMID:34782607|PMID:34860164|PMID:34868260|PMID:34887559|PMID:34906502|PMID:34988040|PMID:34992632|PMID:35024939|PMID:35039564|PMID:35066574|PMID:35101336|PMID:35240321|PMID:35264596|PMID:35698239|PMID:35836575|PMID:35885913|PMID:36243179|PMID:36672847|PMID:36988593|PMID:37149759|PMID:4633999|PMID:7542886|PMID:7581973|PMID:7586657|PMID:7607663|PMID:7633431|PMID:7643367|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8034304|PMID:8069310|PMID:8069315|PMID:8081387|PMID:8099055|PMID:8116612|PMID:8118468|PMID:8242079|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8931693|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9101303|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9177273|PMID:9180088|PMID:9195229|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9452037|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9639526|PMID:9643287|PMID:9654211|PMID:9668168|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: NEUROFIBROMATOSIS, TYPE I | ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26822949|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27234610|PMID:27305697|PMID:27322474|PMID:27482814|PMID:27617404|PMID:27629806|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27959697|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28135719|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28924536|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29068549|PMID:29082380|PMID:29089047|PMID:29146900|PMID:29281626|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29625052|PMID:29673180|PMID:29680440|PMID:29684080|PMID:29685074|PMID:29758562|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30087692|PMID:30093976|PMID:30098238|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30124220|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30544257|PMID:30602027|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30828344|PMID:30877234|PMID:30977107|PMID:31031587|PMID:31048186|PMID:31066482|PMID:31130284|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31397088|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31507634|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31690835|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31868168|PMID:31874108|PMID:31882575|PMID:31891871|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32359129|PMID:32368696|PMID:32369273|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32552793|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32761593|PMID:32860008|PMID:32873259|PMID:32980694|PMID:33046013|PMID:33121128|PMID:33210232|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33794220|PMID:33804961|PMID:33840814|PMID:33877690|PMID:33911094|PMID:33919865|PMID:33965620|PMID:33999308|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34308366|PMID:34418705|PMID:34427956|PMID:34439939|PMID:34489640|PMID:34589056|PMID:34598035|PMID:34694046|PMID:34782607|PMID:34860164|PMID:34868260|PMID:34887559|PMID:34906502|PMID:34988040|PMID:34992632|PMID:35024939|PMID:35039564|PMID:35066574|PMID:35101336|PMID:35119474|PMID:35240321|PMID:35264596|PMID:35698239|PMID:35836575|PMID:35885913|PMID:36243179|PMID:36672847|PMID:36988593|PMID:37149759|PMID:4633999|PMID:7542886|PMID:7581973|PMID:7586657|PMID:7607663|PMID:7633431|PMID:7643367|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8034304|PMID:8069310|PMID:8069315|PMID:8081387|PMID:8099055|PMID:8116612|PMID:8118468|PMID:8242079|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8931693|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9101303|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9177273|PMID:9180088|PMID:9195229|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9452037|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9639526|PMID:9643287|PMID:9654211|PMID:9668168|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26822949|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27234610|PMID:27305697|PMID:27322474|PMID:27482814|PMID:27617404|PMID:27629806|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27959697|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28135719|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28924536|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29068549|PMID:29082380|PMID:29089047|PMID:29146900|PMID:29281626|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29625052|PMID:29673180|PMID:29680440|PMID:29684080|PMID:29685074|PMID:29758562|PMID:29804243|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30087692|PMID:30093976|PMID:30098238|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30124220|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30544257|PMID:30602027|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30828344|PMID:30877234|PMID:30977107|PMID:31031587|PMID:31048186|PMID:31066482|PMID:31130284|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31397088|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31507634|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31690835|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31868168|PMID:31874108|PMID:31882575|PMID:31891871|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32359129|PMID:32368696|PMID:32369273|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32552793|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32761593|PMID:32860008|PMID:32873259|PMID:32980694|PMID:33046013|PMID:33121128|PMID:33210232|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33794220|PMID:33804961|PMID:33840814|PMID:33877690|PMID:33911094|PMID:33919865|PMID:33965620|PMID:33999308|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34308366|PMID:34418705|PMID:34427956|PMID:34439939|PMID:34489640|PMID:34589056|PMID:34598035|PMID:34694046|PMID:34782607|PMID:34860164|PMID:34868260|PMID:34887559|PMID:34906502|PMID:34988040|PMID:34992632|PMID:35024939|PMID:35039564|PMID:35066574|PMID:35101336|PMID:35119474|PMID:35240321|PMID:35264596|PMID:35698239|PMID:35836575|PMID:35885913|PMID:36243179|PMID:36672847|PMID:36988593|PMID:37149759|PMID:4633999|PMID:7542886|PMID:7581973|PMID:7586657|PMID:7607663|PMID:7633431|PMID:7643367|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8034304|PMID:8069310|PMID:8069315|PMID:8081387|PMID:8099055|PMID:8116612|PMID:8118468|PMID:8242079|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8931693|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9101303|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9177273|PMID:9180088|PMID:9195229|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9452037|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9639526|PMID:9643287|PMID:9654211|PMID:9668168|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26822949|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27234610|PMID:27305697|PMID:27322474|PMID:27482814|PMID:27617404|PMID:27629806|PMID:27716896|PMID:27791021|PMID:27793025|PMID:2783839|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27959697|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28135719|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28924536|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29068549|PMID:29082380|PMID:29089047|PMID:29146900|PMID:29281626|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29625052|PMID:29673180|PMID:29680440|PMID:29684080|PMID:29685074|PMID:29758562|PMID:29784605|PMID:29804243|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:29992513|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30087692|PMID:30093976|PMID:30098238|PMID:30104198|PMID:30104415|PMID:30124220|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30544257|PMID:30602027|PMID:30613976|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30828344|PMID:30877234|PMID:30977107|PMID:31031587|PMID:31048186|PMID:31066482|PMID:31130284|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31397088|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31507634|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31690835|PMID:31713330|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31868168|PMID:31874108|PMID:31882575|PMID:31891871|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32352596|PMID:32359129|PMID:32368696|PMID:32369273|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32552793|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32761593|PMID:32860008|PMID:32873259|PMID:32978145|PMID:32980694|PMID:33046013|PMID:33121128|PMID:33210232|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33794220|PMID:33804961|PMID:33840814|PMID:33877690|PMID:33911094|PMID:33919865|PMID:33965620|PMID:33999308|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34308366|PMID:34374989|PMID:34418705|PMID:34427956|PMID:34439939|PMID:34489640|PMID:34589056|PMID:34598035|PMID:34694046|PMID:34782607|PMID:34860164|PMID:34868260|PMID:34887559|PMID:34906502|PMID:34988040|PMID:34992632|PMID:35024939|PMID:35039564|PMID:35066574|PMID:35101336|PMID:35119474|PMID:35240321|PMID:35264596|PMID:35698239|PMID:35836575|PMID:35885913|PMID:36061378|PMID:36243179|PMID:36612057|PMID:36672847|PMID:36980803|PMID:36988593|PMID:37012328|PMID:37090834|PMID:37149759|PMID:37272364|PMID:37751797|PMID:37806041|PMID:4633999|PMID:7542886|PMID:7581973|PMID:7586657|PMID:7607663|PMID:7633431|PMID:7643367|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8034304|PMID:8069310|PMID:8069315|PMID:8081387|PMID:8099055|PMID:8116612|PMID:8118468|PMID:8242079|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8931693|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9101303|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9177273|PMID:9180088|PMID:9195229|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9452037|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis PMID:9639526|PMID:9643287|PMID:9654211|PMID:9668168|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: NEUROFIBROMATOSIS, TYPE I | ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26822949|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27234610|PMID:27305697|PMID:27322474|PMID:27482814|PMID:27617404|PMID:27629806|PMID:27716896|PMID:27791021|PMID:27793025|PMID:2783839|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27959697|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28135719|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28924536|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29068549|PMID:29082380|PMID:29089047|PMID:29146900|PMID:29281626|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29625052|PMID:29673180|PMID:29680440|PMID:29684080|PMID:29685074|PMID:29758562|PMID:29784605|PMID:29804243|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:29992513|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30087692|PMID:30093976|PMID:30098238|PMID:30104198|PMID:30104415|PMID:30124220|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30544257|PMID:30602027|PMID:30613976|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30828344|PMID:30877234|PMID:30977107|PMID:31031587|PMID:31048186|PMID:31066482|PMID:31130284|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31397088|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31507634|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31617914|PMID:31690835|PMID:31713330|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31868168|PMID:31874108|PMID:31882575|PMID:31891871|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32352596|PMID:32359129|PMID:32368696|PMID:32369273|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32552793|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32761593|PMID:32860008|PMID:32873259|PMID:32978145|PMID:32980694|PMID:33046013|PMID:33121128|PMID:33210232|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33794220|PMID:33804961|PMID:33840814|PMID:33877690|PMID:33911094|PMID:33919865|PMID:33965620|PMID:33999308|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34308366|PMID:34374989|PMID:34418705|PMID:34427956|PMID:34439939|PMID:34489640|PMID:34589056|PMID:34598035|PMID:34694046|PMID:34782607|PMID:34860164|PMID:34868260|PMID:34887559|PMID:34906502|PMID:34988040|PMID:34992632|PMID:35024939|PMID:35039564|PMID:35066574|PMID:35101336|PMID:35119474|PMID:35240321|PMID:35264596|PMID:35698239|PMID:35836575|PMID:35885913|PMID:36061378|PMID:36243179|PMID:36612057|PMID:36672847|PMID:36980803|PMID:36988593|PMID:37012328|PMID:37090834|PMID:37149759|PMID:37272364|PMID:37751797|PMID:37806041|PMID:4633999|PMID:7542886|PMID:7581973|PMID:7586657|PMID:7607663|PMID:7633431|PMID:7643367|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8034304|PMID:8069310|PMID:8069315|PMID:8081387|PMID:8099055|PMID:8116612|PMID:8118468|PMID:8242079|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8931693|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9101303|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9177273|PMID:9180088|PMID:9195229|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9452037|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853 11672668 NF1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: NEUROFIBROMATOSIS, TYPE I | ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:9545275|PMID:9639526|PMID:9643287|PMID:9654211|PMID:9668168|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:737471 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:16138229|PMID:23656349|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27793025|PMID:28492532|PMID:31159747|PMID:31891871|PMID:33471991 11672668 NF1 neurofibromin 1 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:737471 D RGD:7240710 20180130 OMIM 11672668 NF1 neurofibromin 1 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:737471 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome PMID:10076878|PMID:10090487|PMID:10336779|PMID:10451518|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11857752|PMID:12095621|PMID:12112660|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12707950|PMID:12807981|PMID:14569132|PMID:14722917|PMID:15060124|PMID:15146469|PMID:15207265|PMID:15523642|PMID:1568246|PMID:1568247|PMID:15863657|PMID:16138229|PMID:16199547|PMID:16380919|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16835897|PMID:16870183|PMID:16941471|PMID:16944272|PMID:17160901|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17426081|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18546366|PMID:18800150|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19221814|PMID:19738042|PMID:19845691|PMID:19935827|PMID:20301288|PMID:20601955|PMID:20602485|PMID:2114220|PMID:21280148|PMID:21354044|PMID:21520333|PMID:21532985|PMID:22034633|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22703879|PMID:22807134|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23404336|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23781326|PMID:23913538|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24654934|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24951259|PMID:25074460|PMID:25240281|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25525159|PMID:25541118|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26467025|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26580448|PMID:26635368|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27716896|PMID:27793025|PMID:27838393|PMID:27980226|PMID:27999334|PMID:28135719|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28976792|PMID:29082380|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29522274|PMID:29673180|PMID:29684080|PMID:29758562|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:30014477|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30877234|PMID:31159747|PMID:31160754|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31533651|PMID:31533797|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31868168|PMID:31882575|PMID:31891871|PMID:32107864|PMID:32461654|PMID:32566746|PMID:32980694|PMID:33046013|PMID:33322618|PMID:33372952|PMID:33471991|PMID:33540839|PMID:33562071|PMID:34080803|PMID:34418705|PMID:34427956|PMID:34988040|PMID:35039564|PMID:35836575|PMID:35885913|PMID:36061378|PMID:36988593|PMID:7586657|PMID:7607663|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:8069310|PMID:8264648|PMID:8385067|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8664912|PMID:8669813|PMID:8834249|PMID:8845843|PMID:9003501|PMID:9042399|PMID:9109662|PMID:9180088|PMID:9219873|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:0112338 spermatogenic failure 57 ISO RGD:737471 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation PMID:29493581 11672668 NF1 neurofibromin 1 gene DOID:10126 keratoconus ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 11672668 NF1 neurofibromin 1 gene DOID:10534 stomach cancer ISO RGD:737471 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10494088|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:11137998|PMID:12112660|PMID:12552569|PMID:12807981|PMID:14569132|PMID:14722917|PMID:15060124|PMID:15146469|PMID:1568246|PMID:15863657|PMID:16199547|PMID:16479075|PMID:16513807|PMID:16542390|PMID:16544997|PMID:16835897|PMID:16870183|PMID:16941471|PMID:16944272|PMID:17160901|PMID:17209131|PMID:17311297|PMID:17551851|PMID:17914445|PMID:18041031|PMID:18546366|PMID:19061981|PMID:20301288|PMID:20602485|PMID:21354044|PMID:21532985|PMID:22108604|PMID:22925204|PMID:23010473|PMID:23047742|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24033266|PMID:24413922|PMID:24654934|PMID:24789688|PMID:25240281|PMID:25324867|PMID:25325900|PMID:25541118|PMID:25741868|PMID:25810463|PMID:26056819|PMID:26088551|PMID:26230854|PMID:26467025|PMID:26962827|PMID:26969325|PMID:27069254|PMID:27322474|PMID:27838393|PMID:28492532|PMID:28873162|PMID:29290338|PMID:29483232|PMID:29618358|PMID:29872168|PMID:29914388|PMID:29926981|PMID:30190611|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:31160754|PMID:31347283|PMID:31370276|PMID:31533651|PMID:31533797|PMID:31717729|PMID:31730495|PMID:31766501|PMID:34418705|PMID:34427956|PMID:35698239|PMID:36988593|PMID:7607663|PMID:7655472|PMID:7904209|PMID:8834249|PMID:9180088|PMID:9385374|PMID:9463322 11672668 NF1 neurofibromin 1 gene DOID:1059 intellectual disability ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12807981|PMID:18183640|PMID:19120036|PMID:24357598|PMID:24789688|PMID:25370043|PMID:25533962|PMID:25741868|PMID:26178382|PMID:26706011|PMID:26740943|PMID:28492532|PMID:29522274 11672668 NF1 neurofibromin 1 gene DOID:1059 intellectual disability ISO RGD:737471 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12807981|PMID:18183640|PMID:19120036|PMID:20301288|PMID:24357598|PMID:24789688|PMID:25370043|PMID:25741868|PMID:25966637|PMID:26178382|PMID:26467025|PMID:28135719|PMID:28492532|PMID:29522274 11672668 NF1 neurofibromin 1 gene DOID:10907 microcephaly ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:30308447 11672668 NF1 neurofibromin 1 gene DOID:11054 urinary bladder cancer ISO RGD:737471 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:10090487|PMID:10712197|PMID:10862084|PMID:10980545|PMID:12112660|PMID:12746402|PMID:12807981|PMID:15060124|PMID:16835897|PMID:16944272|PMID:19221814|PMID:19292874|PMID:20015894|PMID:23656349|PMID:23913538|PMID:24033266|PMID:25074460|PMID:25541118|PMID:25741868|PMID:26467025|PMID:27838393|PMID:28492532|PMID:28961165|PMID:30014477|PMID:31370276|PMID:32107864|PMID:32860008|PMID:34694046|PMID:35024939|PMID:36988593|PMID:8069310 11672668 NF1 neurofibromin 1 gene DOID:1115 sarcoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601955 11672668 NF1 neurofibromin 1 gene DOID:11446 sciatic neuropathy ISO RGD:3168 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve: PMID:8847098|REF_RGD_ID:12790590 11672668 NF1 neurofibromin 1 gene DOID:12849 autistic disorder ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15389774 11672668 NF1 neurofibromin 1 gene DOID:12849 autistic disorder susceptibility ISO RGD:737471 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:GXAlu, IVS27AC28.4 (human) PMID:15389774|REF_RGD_ID:12743657 11672668 NF1 neurofibromin 1 gene DOID:13742 neurofibroma of spinal cord ISO RGD:737471 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Spinal neurofibroma 11672668 NF1 neurofibromin 1 gene DOID:1909 melanoma ISO RGD:737471 D RGD:9068941 20240404 CTD CTD Direct Evidence: marker/mechanism PMID:25119042|PMID:26214590 11672668 NF1 neurofibromin 1 gene DOID:1969 cerebral palsy ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 11672668 NF1 neurofibromin 1 gene DOID:219 colon cancer ISO RGD:737471 D RGD:9068941 20210917 RGD mRNA:increased expression:colon (human) PMID:15840687|REF_RGD_ID:150429699 11672668 NF1 neurofibromin 1 gene DOID:2226 myeloproliferative neoplasm ISO RGD:737471 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:10678181|PMID:23460398|PMID:27069254|PMID:28492532|PMID:29872168|PMID:35101336 11672668 NF1 neurofibromin 1 gene DOID:224 transient cerebral ischemia ISO RGD:3168 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:astrocyte: PMID:8820972|REF_RGD_ID:12789703 11672668 NF1 neurofibromin 1 gene DOID:2394 ovarian cancer ISO RGD:737471 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:30290804|PMID:30784236 11672668 NF1 neurofibromin 1 gene DOID:3068 glioblastoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 11672668 NF1 neurofibromin 1 gene DOID:3069 malignant astrocytoma ISO RGD:10973 D RGD:9068941 20200609 RGD PMID:10973261|REF_RGD_ID:1302542 11672668 NF1 neurofibromin 1 gene DOID:3069 malignant astrocytoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20176786|PMID:23817572 11672668 NF1 neurofibromin 1 gene DOID:3069 malignant astrocytoma ISO RGD:737471 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:10931370|REF_RGD_ID:12743656 11672668 NF1 neurofibromin 1 gene DOID:3070 high grade glioma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 11672668 NF1 neurofibromin 1 gene DOID:3070 high grade glioma disease_progression ISO RGD:737471 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:26190195|REF_RGD_ID:12789702 11672668 NF1 neurofibromin 1 gene DOID:3192 neurilemmoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 11672668 NF1 neurofibromin 1 gene DOID:3247 rhabdomyosarcoma ISO RGD:737471 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10090487|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10862084|PMID:10980545|PMID:11258625|PMID:11857752|PMID:12112660|PMID:12566521|PMID:12746402|PMID:12807981|PMID:1511985|PMID:16937374|PMID:16944272|PMID:16961930|PMID:17426081|PMID:17576681|PMID:17668375|PMID:18041031|PMID:18484666|PMID:18546366|PMID:19076627|PMID:19221814|PMID:19292874|PMID:19738042|PMID:20015894|PMID:20301288|PMID:21354044|PMID:22155606|PMID:22190595|PMID:23222849|PMID:23404336|PMID:23460398|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24033266|PMID:24789688|PMID:24932921|PMID:25324867|PMID:25325900|PMID:25741868|PMID:26056819|PMID:26467025|PMID:26478990|PMID:26740943|PMID:26908603|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27838393|PMID:28422438|PMID:28492532|PMID:29522274|PMID:29673180|PMID:29872168|PMID:29914388|PMID:30014477|PMID:31533797|PMID:31717729|PMID:31776437|PMID:32107864|PMID:32860008|PMID:33372952|PMID:34080803|PMID:34427956|PMID:34694046|PMID:7655472|PMID:8069310|PMID:8099055|PMID:9536098|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:3355 fibrosarcoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601955 11672668 NF1 neurofibromin 1 gene DOID:3369 Ewing sarcoma ISO RGD:737471 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ewing sarcoma | ClinVar Annotator: match by term: Ewing tumor PMID:10494088|PMID:10607834|PMID:10712197|PMID:11137998|PMID:12112660|PMID:12807981|PMID:15060124|PMID:16479075|PMID:16870183|PMID:17311297|PMID:20301288|PMID:22925204|PMID:23668869|PMID:23913538|PMID:25741868|PMID:25810463|PMID:26467025|PMID:26962827|PMID:27322474|PMID:27838393|PMID:28492532|PMID:30290804|PMID:30530636|PMID:31347283|PMID:31730495|PMID:36988593|PMID:7607663|PMID:9385374|PMID:9463322 11672668 NF1 neurofibromin 1 gene DOID:3382 liposarcoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601955 11672668 NF1 neurofibromin 1 gene DOID:3840 craniopharyngioma ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:25741868|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737471 D RGD:9068941 20210521 RGD mRNA:increased expression:lung (human) PMID:30280776|REF_RGD_ID:126925764 11672668 NF1 neurofibromin 1 gene DOID:4851 pilocytic astrocytoma ISO RGD:737471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:10712197|PMID:23913538|PMID:25741868|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:4992 optic nerve glioma ISO RGD:737471 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic nerve glioma PMID:10712197|PMID:11857752|PMID:12095621|PMID:14722917|PMID:1568247|PMID:16199547|PMID:16380919|PMID:16513807|PMID:16786508|PMID:18546366|PMID:22155606|PMID:22807134|PMID:23244495|PMID:23913538|PMID:24033266|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26840085|PMID:27322474|PMID:27716896|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29673180|PMID:31595648|PMID:32107864|PMID:8264648|PMID:8499944|PMID:8499945|PMID:8669813|PMID:9003501|PMID:9219873 11672668 NF1 neurofibromin 1 gene DOID:4992 optic nerve glioma susceptibility ISO RGD:737471 D RGD:9068941 20200609 RGD associated with Neurofibromatosis 1; DNA:mutations:5'end: PMID:21278392|REF_RGD_ID:12789442 11672668 NF1 neurofibromin 1 gene DOID:5151 plexiform neurofibroma ISO RGD:737471 D RGD:9068941 20210528 RGD associated with severe combined immunodeficiency, human cells in mouse model PMID:17335073|REF_RGD_ID:126925763 11672668 NF1 neurofibromin 1 gene DOID:540 strabismus ISO RGD:737471 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Strabismus PMID:21520333|PMID:25741868|PMID:28492532|PMID:33471991 11672668 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:24789688|PMID:25741868|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:9691142 11672668 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:33471991|PMID:9691142 11672668 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:33471991|PMID:35091509|PMID:9691142 11672668 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26467025|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:33471991|PMID:35091509|PMID:9691142 11672668 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26467025|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:31370276|PMID:32566746|PMID:33471991|PMID:35091509|PMID:9691142 11672668 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26467025|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:31370276|PMID:32566746|PMID:33471991|PMID:35091509|PMID:35264596|PMID:9691142 11672668 NF1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11857752|PMID:12807981|PMID:15146469|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26467025|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:31370276|PMID:32566746|PMID:33471991|PMID:9691142 11672668 NF1 neurofibromin 1 gene DOID:630 genetic disease ISO RGD:737471 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10678181|PMID:10712197|PMID:12483293|PMID:12807981|PMID:16835897|PMID:17311297|PMID:17889038|PMID:18546366|PMID:23460398|PMID:23668869|PMID:23913538|PMID:25074460|PMID:25356970|PMID:25525159|PMID:25624686|PMID:25741868|PMID:26969325|PMID:27069254|PMID:2783839|PMID:27838393|PMID:28152038|PMID:28492532|PMID:29089047|PMID:29620724|PMID:29872168|PMID:33919865|PMID:36612057 11672668 NF1 neurofibromin 1 gene DOID:657 adenoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 11672668 NF1 neurofibromin 1 gene DOID:768 retinoblastoma ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:8712 neurofibromatosis ISO RGD:737471 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Neurofibromatosis | ClinVar Annotator: match by term: Neurofibromatosis type 6 PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:11857752|PMID:12095621|PMID:14722917|PMID:15146469|PMID:1568247|PMID:15846561|PMID:16380919|PMID:16479075|PMID:16513807|PMID:16786508|PMID:16835897|PMID:16941471|PMID:17209131|PMID:17406642|PMID:17551851|PMID:17914445|PMID:18546366|PMID:19142971|PMID:21278392|PMID:21354044|PMID:22155606|PMID:22807134|PMID:23244495|PMID:23460398|PMID:23668869|PMID:23913538|PMID:24033266|PMID:25240281|PMID:25325900|PMID:25741868|PMID:26056819|PMID:26467025|PMID:26840085|PMID:26969325|PMID:27069254|PMID:27322474|PMID:27716896|PMID:27838393|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29673180|PMID:29872168|PMID:30530636|PMID:30613976|PMID:31347283|PMID:31370276|PMID:31533651|PMID:31533797|PMID:31595648|PMID:31717729|PMID:32107864|PMID:32581362|PMID:33877690|PMID:34374989|PMID:34418705|PMID:34427956|PMID:34694046|PMID:36988593|PMID:8264648|PMID:8499944|PMID:8499945|PMID:8669813|PMID:9003501|PMID:9180088|PMID:9219873 11672668 NF1 neurofibromin 1 gene DOID:8864 acute monocytic leukemia ISO RGD:737471 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acute monocytic leukemia PMID:25741868|PMID:28492532|PMID:29290338|PMID:33471991 11672668 NF1 neurofibromin 1 gene DOID:8927 learning disability ISO RGD:10973 D RGD:9068941 20200609 RGD PMID:11279521|REF_RGD_ID:1302541 11672668 NF1 neurofibromin 1 gene DOID:8927 learning disability ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21949590 11672668 NF1 neurofibromin 1 gene DOID:9002182 Cafe au lait Spots, Multiple ISO RGD:737471 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cafe au lait spots, multiple PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:11857752|PMID:12095621|PMID:14722917|PMID:15146469|PMID:1568247|PMID:15846561|PMID:16380919|PMID:16479075|PMID:16513807|PMID:16786508|PMID:16835897|PMID:16941471|PMID:16944272|PMID:17209131|PMID:17406642|PMID:17551851|PMID:17576681|PMID:17914445|PMID:18484666|PMID:18546366|PMID:19142971|PMID:19845691|PMID:21278392|PMID:21354044|PMID:21520333|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22807134|PMID:23244495|PMID:23404336|PMID:23460398|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24033266|PMID:24232412|PMID:24789688|PMID:25240281|PMID:25325900|PMID:25403449|PMID:25741868|PMID:26056819|PMID:26467025|PMID:26478990|PMID:26840085|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:27716896|PMID:27838393|PMID:28008555|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29673180|PMID:29872168|PMID:30014477|PMID:30308447|PMID:30530636|PMID:30613976|PMID:31347283|PMID:31370276|PMID:31533651|PMID:31533797|PMID:31595648|PMID:31713330|PMID:31717729|PMID:31776437|PMID:32107864|PMID:32126153|PMID:32352596|PMID:32581362|PMID:33443663|PMID:33877690|PMID:34080803|PMID:34374989|PMID:34418705|PMID:34427956|PMID:34694046|PMID:35024939|PMID:35885913|PMID:36988593|PMID:37272364|PMID:7581973|PMID:7981679|PMID:8264648|PMID:8499944|PMID:8499945|PMID:8669813|PMID:8837715|PMID:9003501|PMID:9150739|PMID:9180088|PMID:9219873|PMID:9475595|PMID:9536098 11672668 NF1 neurofibromin 1 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:737471 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:10607834|PMID:10712197|PMID:12112660|PMID:12807981|PMID:16199547|PMID:16835897|PMID:16944272|PMID:17668375|PMID:19738042|PMID:21520333|PMID:22155606|PMID:22190595|PMID:23404336|PMID:23913538|PMID:25324867|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26908603|PMID:26973730|PMID:27171602|PMID:27482814|PMID:28492532|PMID:29522274|PMID:31717729|PMID:33372952|PMID:33471991|PMID:34080803 11672668 NF1 neurofibromin 1 gene DOID:9002498 Wallerian Degeneration ISO RGD:3168 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve: PMID:8847098|REF_RGD_ID:12790590 11672668 NF1 neurofibromin 1 gene DOID:9004158 diffuse intrinsic pontine glioma ISO RGD:737471 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma PMID:25741868|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20176786|PMID:25240281 11672668 NF1 neurofibromin 1 gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:737471 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:11857752|PMID:12095621|PMID:14722917|PMID:1568247|PMID:16380919|PMID:16513807|PMID:16786508|PMID:18546366|PMID:22155606|PMID:22807134|PMID:23244495|PMID:24033266|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26840085|PMID:27322474|PMID:27716896|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29673180|PMID:31595648|PMID:32107864|PMID:8264648|PMID:8499944|PMID:8499945|PMID:8669813|PMID:9003501|PMID:9219873 11672668 NF1 neurofibromin 1 gene DOID:9005120 Pigmented Nevus ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15523626|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16306205|PMID:16380919|PMID:16414076|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19292874|PMID:19449407|PMID:19738042|PMID:19845691|PMID:20186797|PMID:20602485|PMID:20605257|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21838856|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23913538|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24586880|PMID:24654934|PMID:24694336|PMID:24710307|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25541118|PMID:25612910|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29089047|PMID:29100083|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29483232|PMID:29489754|PMID:29522274|PMID:29618358|PMID:29673180|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30014477|PMID:30087692|PMID:30093976|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30977107|PMID:31159747|PMID:31160754|PMID:31206626|PMID:31301733|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31443423|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31882575|PMID:32107864|PMID:32126153|PMID:32566746|PMID:32581362 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32860008|PMID:33046013|PMID:33121128|PMID:33443663|PMID:33471991|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15523626|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16306205|PMID:16380919|PMID:16414076|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19292874|PMID:19449407|PMID:19738042|PMID:19845691|PMID:20186797|PMID:20602485|PMID:20605257|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21838856|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23913538|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24586880|PMID:24654934|PMID:24694336|PMID:24710307|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25541118|PMID:25612910|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27854218|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29089047|PMID:29100083|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29483232|PMID:29489754|PMID:29522274|PMID:29618358|PMID:29673180|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30014477|PMID:30087692|PMID:30093976|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30977107|PMID:31159747|PMID:31160754|PMID:31206626|PMID:31301733|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31443423|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31882575|PMID:32107864|PMID:32126153|PMID:32566746 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32581362|PMID:32860008|PMID:33046013|PMID:33121128|PMID:33443663|PMID:33471991|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15523626|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20186797|PMID:20301288|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30192042|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31874108|PMID:31882575|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32359129|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33673681|PMID:33674644|PMID:34080803|PMID:34392670|PMID:34646065|PMID:34782607|PMID:34860164|PMID:35091509|PMID:35101336|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31874108|PMID:31882575|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32359129|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33674644|PMID:34012022|PMID:34080803|PMID:34392670|PMID:34427956|PMID:34646065|PMID:34694046|PMID:34782607|PMID:34860164|PMID:34988040|PMID:35091509|PMID:35101336|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31874108|PMID:31882575|PMID:32052251|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:34012022|PMID:34080803|PMID:34392670|PMID:34427956|PMID:34489640|PMID:34646065|PMID:34694046|PMID:34782607|PMID:34860164|PMID:34988040|PMID:35091509|PMID:35101336|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:17960768|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:17960768|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20358387|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26017449|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27854218|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28422438|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31874108|PMID:31882575|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32533764|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34489640|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34860164|PMID:34887559|PMID:34988040|PMID:35039564|PMID:35091509|PMID:35101336|PMID:35264596|PMID:35353986|PMID:35836575|PMID:35885913|PMID:36988593|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:17960768|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20358387|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26017449|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28422438|PMID:28492532|PMID:28529006 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31874108|PMID:31882575|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32533764|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34489640|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34860164|PMID:34887559|PMID:34988040|PMID:35039564|PMID:35066574|PMID:35091509|PMID:35101336|PMID:35264596|PMID:35353986|PMID:35836575|PMID:35885913|PMID:36988593|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31874108|PMID:31882575|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34489640|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34860164|PMID:34887559|PMID:34988040|PMID:35039564|PMID:35066574|PMID:35091509|PMID:35101336|PMID:35264596|PMID:35353986|PMID:35836575|PMID:35885913|PMID:36243179|PMID:36988593|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28130400|PMID:28135719|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29758562|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31874108|PMID:31882575|PMID:31891871|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34489640|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34860164|PMID:34887559|PMID:34988040|PMID:35039564|PMID:35066574|PMID:35091509|PMID:35101336|PMID:35264596|PMID:35353986|PMID:35698239|PMID:35836575|PMID:35885913|PMID:36243179|PMID:36988593|PMID:37149759|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28068329|PMID:28130400|PMID:28135719|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29068549|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29281626|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29758562|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31868168|PMID:31874108|PMID:31882575|PMID:31891871|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:33840814|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34489640|PMID:34589056|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34860164|PMID:34887559|PMID:34906502|PMID:34988040|PMID:35039564|PMID:35066574|PMID:35091509|PMID:35101336|PMID:35240321|PMID:35264596|PMID:35353986|PMID:35698239|PMID:35836575|PMID:35885913|PMID:36243179|PMID:36988593|PMID:37149759|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11726231|PMID:11735023|PMID:11857752|PMID:12095621|PMID:12112660|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12624144|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:1568246|PMID:1568247|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16306205|PMID:16380919|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16787982|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:17960768|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18546366|PMID:18800150|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19292874|PMID:19449407|PMID:19738042|PMID:19845691|PMID:19935827|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20601955|PMID:20602485|PMID:20605257|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:2152033|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21618341|PMID:21732117|PMID:21822264|PMID:21838856|PMID:22034633|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22207399|PMID:22222937|PMID:22608206|PMID:22617876|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23222849|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23781326|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24654934|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25541118|PMID:25612910|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27305697|PMID:27322474|PMID:27482814|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28135719|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29068549|PMID:29082380|PMID:29089047|PMID:29146900|PMID:29281626|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080 11672668 NF1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29685074|PMID:29758562|PMID:29784605|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30544257|PMID:30613976|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30828344|PMID:30877234|PMID:30977107|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31713330|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31868168|PMID:31874108|PMID:31882575|PMID:31891871|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32352596|PMID:32359129|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32860008|PMID:32978145|PMID:32980694|PMID:33046013|PMID:33121128|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:33840814|PMID:33877690|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34374989|PMID:34418705|PMID:34427956|PMID:34489640|PMID:34589056|PMID:34598035|PMID:34694046|PMID:34887559|PMID:34906502|PMID:34988040|PMID:35039564|PMID:35066574|PMID:35101336|PMID:35240321|PMID:35264596|PMID:35698239|PMID:35836575|PMID:35885913|PMID:36061378|PMID:36243179|PMID:36612057|PMID:36980803|PMID:36988593|PMID:37012328|PMID:37090834|PMID:37149759|PMID:37272364|PMID:37751797|PMID:3943125|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9639526|PMID:9654211|PMID:9668168|PMID:9691142|PMID:9783703 11672668 NF1 neurofibromin 1 gene DOID:9007502 Brain Neoplasms ISO RGD:737471 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Neoplasm of brain PMID:10712197|PMID:16199547|PMID:23913538|PMID:25741868|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:9007748 Retinal Neovascularization ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29847659 11672668 NF1 neurofibromin 1 gene DOID:9007769 Pseudarthrosis ISO RGD:3168 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cartilage" PMID:8820972|REF_RGD_ID:12789703 11672668 NF1 neurofibromin 1 gene DOID:9007908 Aortic Coarctation ISO RGD:737471 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Midaortic syndrome PMID:10712197|PMID:10862084|PMID:12552569|PMID:15146469|PMID:16199547|PMID:16513807|PMID:16944272|PMID:17576681|PMID:23637863|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24413922|PMID:24654934|PMID:25074460|PMID:25741868|PMID:26088551|PMID:28492532|PMID:28518168|PMID:29290338|PMID:29483232|PMID:29926981|PMID:31160754|PMID:32461654|PMID:36988593|PMID:9536098 11672668 NF1 neurofibromin 1 gene DOID:9007956 Febrile Seizures ISO RGD:737471 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:21520333|PMID:25741868|PMID:28492532|PMID:33471991 11672668 NF1 neurofibromin 1 gene DOID:9008086 Developmental Disabilities ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 11672668 NF1 neurofibromin 1 gene DOID:9008763 Femoral Fractures ISO RGD:10973 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cartilage" PMID:8820972|REF_RGD_ID:12789703 11672668 NF1 neurofibromin 1 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:737471 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:10712197|PMID:16835897|PMID:16944272|PMID:23913538|PMID:25074460|PMID:25741868|PMID:26467025|PMID:28492532 11672668 NF1 neurofibromin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441929|PMID:25822087 11672668 NF1 neurofibromin 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737471 D RGD:9068941 20200609 RGD PMID:12518368|REF_RGD_ID:12754447 11672668 NF1 neurofibromin 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:737471 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:23460398|REF_RGD_ID:12789444 11672668 NF1 neurofibromin 1 gene DOID:9538 multiple myeloma ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 11672668 NF1 neurofibromin 1 gene DOID:962 neurofibroma ISO RGD:737471 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Neurofibroma PMID:10712197|PMID:10726756|PMID:10862084|PMID:11857752|PMID:12095621|PMID:14722917|PMID:15146469|PMID:1568247|PMID:15846561|PMID:16199547|PMID:16380919|PMID:16513807|PMID:16786508|PMID:16835897|PMID:16944272|PMID:17311297|PMID:17406642|PMID:17576681|PMID:18546366|PMID:19142971|PMID:19449407|PMID:21278392|PMID:22155606|PMID:22807134|PMID:23244495|PMID:23758643|PMID:23913538|PMID:24033266|PMID:25325900|PMID:25741868|PMID:25788518|PMID:26056819|PMID:26467025|PMID:26514327|PMID:26840085|PMID:27074763|PMID:27322474|PMID:27716896|PMID:27838393|PMID:28068329|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29618358|PMID:29673180|PMID:30613976|PMID:31347283|PMID:31370276|PMID:31476437|PMID:31533651|PMID:31595648|PMID:31717729|PMID:31766501|PMID:31776437|PMID:32005694|PMID:32056211|PMID:32107864|PMID:32533764|PMID:32581362|PMID:33877690|PMID:34080803|PMID:34374989|PMID:34418705|PMID:34427956|PMID:34694046|PMID:34868260|PMID:8264648|PMID:8499944|PMID:8499945|PMID:8669813|PMID:8829638|PMID:9003501|PMID:9219873|PMID:9536098|PMID:9783703 11672743 ADPGK ADP dependent glucokinase gene DOID:0110225 Brugada syndrome 8 ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 11672743 ADPGK ADP dependent glucokinase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 11672743 ADPGK ADP dependent glucokinase gene DOID:2717 Bloom syndrome ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11672743 ADPGK ADP dependent glucokinase gene DOID:3320 Tay-Sachs disease ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 11672743 ADPGK ADP dependent glucokinase gene DOID:5419 schizophrenia ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11672743 ADPGK ADP dependent glucokinase gene DOID:9256 colorectal cancer ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11672756 WDR12 WD repeat domain 12 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1353160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11672756 WDR12 WD repeat domain 12 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1353160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11672756 WDR12 WD repeat domain 12 gene DOID:12930 dilated cardiomyopathy ISO RGD:1353160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25915632 11672756 WDR12 WD repeat domain 12 gene DOID:14557 primary pulmonary hypertension ISO RGD:1353160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11672756 WDR12 WD repeat domain 12 gene DOID:3393 coronary artery disease ISO RGD:1353160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 11672756 WDR12 WD repeat domain 12 gene DOID:5844 myocardial infarction ISO RGD:1353160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198609|PMID:25915632 11672756 WDR12 WD repeat domain 12 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1353160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 11672756 WDR12 WD repeat domain 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11672756 WDR12 WD repeat domain 12 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1353160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 11672774 CACNG8 calcium voltage-gated channel auxiliary subunit gamma 8 gene DOID:10939 antisocial personality disorder ISO RGD:732323 D RGD:9068941 20220825 MouseDO 11672774 CACNG8 calcium voltage-gated channel auxiliary subunit gamma 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:732322 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:left ventricule: PMID:26710323|REF_RGD_ID:11353143 11672783 NALCN sodium leak channel, non-selective gene DOID:0060041 autism spectrum disorder ISO RGD:733715 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532|PMID:30504930 11672783 NALCN sodium leak channel, non-selective gene DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome ISO RGD:733715 D RGD:7240710 20180130 OMIM 11672783 NALCN sodium leak channel, non-selective gene DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome ISO RGD:733715 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay PMID:23749988|PMID:24075186|PMID:25683120|PMID:25741868|PMID:25864427|PMID:26763878|PMID:26938784|PMID:27473021|PMID:27633718|PMID:27681385|PMID:28327206|PMID:28333917|PMID:28454995|PMID:28492532|PMID:30167850|PMID:31409833|PMID:32618095|PMID:32668698|PMID:32698188 11672783 NALCN sodium leak channel, non-selective gene DOID:0110878 holoprosencephaly 5 ISO RGD:733715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 11672783 NALCN sodium leak channel, non-selective gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:27214504|PMID:31680123 11672783 NALCN sodium leak channel, non-selective gene DOID:1059 intellectual disability ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11672783 NALCN sodium leak channel, non-selective gene DOID:14701 propionic acidemia ISO RGD:733715 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 11672783 NALCN sodium leak channel, non-selective gene DOID:1826 epilepsy ISO RGD:733715 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:26923739 11672783 NALCN sodium leak channel, non-selective gene DOID:630 genetic disease ISO RGD:733715 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23749988|PMID:24075186|PMID:25683120|PMID:25741868|PMID:25864427|PMID:26763878|PMID:27214504|PMID:27473021|PMID:28133733|PMID:28327206|PMID:28454995|PMID:28492532|PMID:29399786|PMID:29610177|PMID:32618095|PMID:32668698 11672783 NALCN sodium leak channel, non-selective gene DOID:9001769 Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability with episodic ataxia and congenital arthrogryposis PMID:25683120|PMID:25741868|PMID:25864427|PMID:26763878|PMID:28454995|PMID:28492532 11672783 NALCN sodium leak channel, non-selective gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11672783 NALCN sodium leak channel, non-selective gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11672783 NALCN sodium leak channel, non-selective gene DOID:9006534 Nervous System Malformations ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11672783 NALCN sodium leak channel, non-selective gene DOID:9006603 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies ISO RGD:733715 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies PMID:25741868 11672783 NALCN sodium leak channel, non-selective gene DOID:9008582 Developmental Disease ISO RGD:733715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11672783 NALCN sodium leak channel, non-selective gene DOID:9008988 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 ISO RGD:733715 D RGD:7240710 20180130 OMIM 11672783 NALCN sodium leak channel, non-selective gene DOID:9008988 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 ISO RGD:733715 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | ClinVar Annotator: match by term: NALCN-related condition PMID:17576681|PMID:23749988|PMID:24075186|PMID:25533962|PMID:25683120|PMID:25741868|PMID:28492532|PMID:29168298|PMID:29610177|PMID:30167850|PMID:30293248|PMID:32698188|PMID:9536098 11672845 FBXO39 F-box protein 39 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1322937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11672845 FBXO39 F-box protein 39 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1322937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11672845 FBXO39 F-box protein 39 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1322937 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11672845 FBXO39 F-box protein 39 gene DOID:12177 common variable immunodeficiency ISO RGD:1322937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 11672845 FBXO39 F-box protein 39 gene DOID:2729 dyskeratosis congenita ISO RGD:1322937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11672853 RAB2A RAB2A, member RAS oncogene family gene DOID:0050834 CHARGE syndrome ISO RGD:68446 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE syndrome PMID:18413373|PMID:19772954|PMID:22258531|PMID:22902603|PMID:28492532 11672853 RAB2A RAB2A, member RAS oncogene family gene DOID:11612 polycystic ovary syndrome ISO RGD:68446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 11672865 ZNF655 zinc finger protein 655 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11672893 ZNF670 zinc finger protein 670 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603930 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 11672893 ZNF670 zinc finger protein 670 gene DOID:13938 amenorrhea ISO RGD:1603930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11672893 ZNF670 zinc finger protein 670 gene DOID:1540 parathyroid carcinoma ISO RGD:1603930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11672893 ZNF670 zinc finger protein 670 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11672911 WWC2 WW and C2 domain containing 2 gene DOID:2843 long QT syndrome ISO RGD:1605043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11672937 TRERF1 transcriptional regulating factor 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1316196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11672937 TRERF1 transcriptional regulating factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316196 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19075277 11672937 TRERF1 transcriptional regulating factor 1 gene DOID:905 Zellweger syndrome ISO RGD:1316196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11672994 SEH1L SEH1 like nucleoporin gene DOID:0050591 tooth agenesis ISO RGD:1352568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis 11672994 SEH1L SEH1 like nucleoporin gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1352568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 11672994 SEH1L SEH1 like nucleoporin gene DOID:1059 intellectual disability ISO RGD:1352568 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 11673013 ITGB8 integrin subunit beta 8 gene DOID:0050589 inflammatory bowel disease ISO RGD:1322799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 11673013 ITGB8 integrin subunit beta 8 gene DOID:0080600 COVID-19 ISO RGD:1322799 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11673013 ITGB8 integrin subunit beta 8 gene DOID:289 endometriosis ISO RGD:1322799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 11673013 ITGB8 integrin subunit beta 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11673013 ITGB8 integrin subunit beta 8 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1322799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 11673031 TAF8 TATA-box binding protein associated factor 8 gene DOID:0050444 infantile Refsum disease ISO RGD:1318181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11673031 TAF8 TATA-box binding protein associated factor 8 gene DOID:10907 microcephaly ISO RGD:1318181 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:29648665|PMID:35759269 11673031 TAF8 TATA-box binding protein associated factor 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318181 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 11673031 TAF8 TATA-box binding protein associated factor 8 gene DOID:9007324 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY ISO RGD:1318181 D RGD:7240710 20221221 OMIM 11673031 TAF8 TATA-box binding protein associated factor 8 gene DOID:9007324 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY ISO RGD:1318181 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy PMID:25741868|PMID:29648665|PMID:35759269 11673031 TAF8 TATA-box binding protein associated factor 8 gene DOID:9007462 Partial Agenesis of Corpus Callosum ISO RGD:1318181 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Partial agenesis of corpus callosum PMID:25741868|PMID:29648665|PMID:35759269 11673031 TAF8 TATA-box binding protein associated factor 8 gene DOID:905 Zellweger syndrome ISO RGD:1318181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 11673050 CLEC6A C-type lectin domain containing 6A gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1351045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11673050 CLEC6A C-type lectin domain containing 6A gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1351045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:16964591|PMID:28492532 11673050 CLEC6A C-type lectin domain containing 6A gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1351045 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896 11673050 CLEC6A C-type lectin domain containing 6A gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1351045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 11673050 CLEC6A C-type lectin domain containing 6A gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1351045 D RGD:8554872 20240716 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896 11673050 CLEC6A C-type lectin domain containing 6A gene DOID:0111621 Temtamy syndrome ISO RGD:1351045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11673050 CLEC6A C-type lectin domain containing 6A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1351045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11673061 RPL31 ribosomal protein L31 gene DOID:9008939 Breast Neoplasms ISO RGD:734080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 11673073 NR2E1 nuclear receptor subfamily 2 group E member 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1346337 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:23623387|PMID:28492532 11673086 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1603839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25583766 11673086 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1603839 D RGD:7240710 20190315 OMIM 11673086 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1603839 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: IRF2BP2-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 PMID:24033266|PMID:25741868|PMID:27016798|PMID:28492532|PMID:35538558 11673086 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11673086 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:9003788 Immune Deficiency, Familial Variable ISO RGD:1603839 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Immune deficiency, familial variable PMID:25741868 11673086 IRF2BP2 interferon regulatory factor 2 binding protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11673099 DNAJA2 DnaJ heat shock protein family (Hsp40) member A2 gene DOID:0111041 glycogen storage disease IXB ISO RGD:732533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 11673099 DNAJA2 DnaJ heat shock protein family (Hsp40) member A2 gene DOID:409 liver disease ISO RGD:71001 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:15270078|REF_RGD_ID:4891447 11673112 CYRIA CYFIP related Rac1 interactor A gene DOID:5723 optic atrophy ISO RGD:1348694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:32581362 11673112 CYRIA CYFIP related Rac1 interactor A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:0001816 angiosarcoma ISO RGD:736032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:0060680 pigment dispersion syndrome ISO RGD:736033 D RGD:9068941 20220825 MouseDO OMIM:600510 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:736032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:0080600 COVID-19 ISO RGD:736032 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:0110266 cataract 9 multiple types ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:10584 retinitis pigmentosa ISO RGD:736032 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801|PMID:34828430 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:1059 intellectual disability ISO RGD:736032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:10808 gastric ulcer ISO RGD:70936 D RGD:9068941 20200609 RGD Protein:decreased expression:serum PMID:11353854|REF_RGD_ID:1600910 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:12849 autistic disorder ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:1289 neurodegenerative disease ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive neurodegenerative disease PMID:25741868|PMID:28492532|PMID:31623504 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:13550 angle-closure glaucoma ISO RGD:736032 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Glaucoma, primary closed-angle PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29977801|PMID:30007336|PMID:31623504|PMID:34828430 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:1405 primary angle-closure glaucoma ISO RGD:736032 D RGD:7240710 20200715 OMIM 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:182 calcinosis ISO RGD:736032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:4079 heart valve disease ISO RGD:736032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:4448 macular degeneration ISO RGD:736032 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801|PMID:34828430 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:736032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28714951|PMID:29738522|PMID:9536098 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:684 hepatocellular carcinoma severity ISO RGD:70936 D RGD:9068941 20200609 RGD Protein:increased expression PMID:15739185|REF_RGD_ID:1600906 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:83 cataract ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:12415512|PMID:16199547|PMID:19390655|PMID:25456301|PMID:28492532 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:8501 fundus dystrophy ISO RGD:736032 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12415512|PMID:12766032|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801|PMID:32581362|PMID:33238767|PMID:34828430|PMID:35387550 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:8577 ulcerative colitis ISO RGD:70936 D RGD:9068941 20200609 RGD Protein:increased expression:large intestine mucosa PMID:17011522|REF_RGD_ID:1600887 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:891 progressive myoclonus epilepsy ISO RGD:736032 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9000784 Fibrosis ISO RGD:70936 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11592600|REF_RGD_ID:632362 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9002033 Knobloch Syndrome ISO RGD:736032 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Knobloch syndrome PMID:10942434|PMID:12415512|PMID:14695535|PMID:1554013|PMID:16199547|PMID:17546652|PMID:17576681|PMID:17975799|PMID:19160445|PMID:19390655|PMID:20799329|PMID:20979194|PMID:21862674|PMID:21937992|PMID:23667181|PMID:24033266|PMID:25456301|PMID:25741868|PMID:26467025|PMID:27259167|PMID:28041643|PMID:28144890|PMID:28492532|PMID:29977801|PMID:30007336|PMID:31415705|PMID:32581362|PMID:32860008|PMID:34828430|PMID:9536098 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9002525 Hereditary Eye Diseases susceptibility ISO RGD:736032 D RGD:9068941 20200609 RGD Knobloch syndrome, OMIM:267750;DNA:deletion: :c.3514delCT PMID:12415512|REF_RGD_ID:1600885 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9002766 Knobloch Syndrome Type I ISO RGD:736032 D RGD:7240710 20220727 OMIM 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9002766 Knobloch Syndrome Type I ISO RGD:736032 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1 PMID:12415512|PMID:12766032|PMID:14695535|PMID:16199547|PMID:17546652|PMID:17576681|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23040494|PMID:23667181|PMID:24507774|PMID:25024173|PMID:25456301|PMID:25741868|PMID:26467025|PMID:27259167|PMID:28041643|PMID:28144890|PMID:28492532|PMID:29977801|PMID:31415705|PMID:31623504|PMID:33238767|PMID:34828430|PMID:35387550|PMID:9536098 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9002928 Colonic Neoplasms severity ISO RGD:70936 D RGD:9068941 20200609 RGD PMID:16437622|REF_RGD_ID:1600901 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:70936 D RGD:9068941 20200609 RGD PMID:10766159|REF_RGD_ID:70690 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9263 homocystinuria ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 11673127 COL18A1 collagen type XVIII alpha 1 chain gene DOID:9562 primary ciliary dyskinesia ISO RGD:736032 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11673169 MAP7D3 MAP7 domain containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11673169 MAP7D3 MAP7 domain containing 3 gene DOID:0060825 Christianson syndrome ISO RGD:1606231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11673169 MAP7D3 MAP7 domain containing 3 gene DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 ISO RGD:1606231 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy PMID:18179888|PMID:19687455|PMID:19716112|PMID:22523091|PMID:24114807|PMID:27409453|PMID:28492532 11673169 MAP7D3 MAP7 domain containing 3 gene DOID:0111823 autosomal hemophilia A ISO RGD:1606231 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 11673169 MAP7D3 MAP7 domain containing 3 gene DOID:12134 factor VIII deficiency ISO RGD:1606231 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 11673169 MAP7D3 MAP7 domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1606231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11673169 MAP7D3 MAP7 domain containing 3 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1606231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11673169 MAP7D3 MAP7 domain containing 3 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1606231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 11673212 CDK10 cyclin dependent kinase 10 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1312526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 11673212 CDK10 cyclin dependent kinase 10 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1312526 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 11673212 CDK10 cyclin dependent kinase 10 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1312526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 11673212 CDK10 cyclin dependent kinase 10 gene DOID:13636 Fanconi anemia ISO RGD:1312526 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:11091222|PMID:28492532|PMID:29098742 11673212 CDK10 cyclin dependent kinase 10 gene DOID:14780 KBG syndrome ISO RGD:1312526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 11673212 CDK10 cyclin dependent kinase 10 gene DOID:630 genetic disease ISO RGD:1312526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26539891|PMID:29130579 11673212 CDK10 cyclin dependent kinase 10 gene DOID:9003087 Al Kaissi Syndrome ISO RGD:1312526 D RGD:7240710 20190315 OMIM 11673212 CDK10 cyclin dependent kinase 10 gene DOID:9003087 Al Kaissi Syndrome ISO RGD:1312526 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Al Kaissi syndrome | ClinVar Annotator: match by term: CDK10-related condition PMID:25741868|PMID:26539891|PMID:28886341|PMID:29130579|PMID:36474027 11673212 CDK10 cyclin dependent kinase 10 gene DOID:9008086 Developmental Disabilities ISO RGD:1312526 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11673250 UCKL1 uridine-cytidine kinase 1 like 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11673250 UCKL1 uridine-cytidine kinase 1 like 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1342858 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11673250 UCKL1 uridine-cytidine kinase 1 like 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1342858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11673250 UCKL1 uridine-cytidine kinase 1 like 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1342858 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11673250 UCKL1 uridine-cytidine kinase 1 like 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1342858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 11673281 BBIP1 BBSome interacting protein 1 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:2300355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 11673281 BBIP1 BBSome interacting protein 1 gene DOID:0080690 RASopathy ISO RGD:2300355 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: RASopathy PMID:24739123|PMID:28492532 11673281 BBIP1 BBSome interacting protein 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:2300355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia 11673281 BBIP1 BBSome interacting protein 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:2300355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:24026985 11673281 BBIP1 BBSome interacting protein 1 gene DOID:0110140 Bardet-Biedl syndrome 18 ISO RGD:2300355 D RGD:7240710 20180130 OMIM 11673281 BBIP1 BBSome interacting protein 1 gene DOID:0110140 Bardet-Biedl syndrome 18 ISO RGD:2300355 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: BBIP1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 18 PMID:17576681|PMID:24026985|PMID:25741868|PMID:28492532|PMID:32055034|PMID:32552793|PMID:9536098 11673281 BBIP1 BBSome interacting protein 1 gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:2300355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 11673321 MAN1A1 mannosidase alpha class 1A member 1 gene DOID:1059 intellectual disability ISO RGD:1322054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 11673321 MAN1A1 mannosidase alpha class 1A member 1 gene DOID:10907 microcephaly ISO RGD:1322054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 11673321 MAN1A1 mannosidase alpha class 1A member 1 gene DOID:9000495 Tremor ISO RGD:1322054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 11673339 RETN resistin gene DOID:0060180 colitis treatment ISO RGD:628781 D RGD:9068941 20200609 RGD PMID:22630819|REF_RGD_ID:7207222 11673339 RETN resistin gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1349693 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 11673339 RETN resistin gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:628781 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20560816|REF_RGD_ID:7207249 11673339 RETN resistin gene DOID:0080490 mucolipidosis type IV ISO RGD:1349693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 11673339 RETN resistin gene DOID:0080600 COVID-19 ISO RGD:1349693 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 11673339 RETN resistin gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1349693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11673339 RETN resistin gene DOID:10763 hypertension ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:*62A>G (human) PMID:12629116|REF_RGD_ID:1624968 11673339 RETN resistin gene DOID:11054 urinary bladder cancer ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18373357|REF_RGD_ID:7207154 11673339 RETN resistin gene DOID:114 heart disease ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;protein:increased expression:serum PMID:15670203|REF_RGD_ID:7207157 11673339 RETN resistin gene DOID:11400 pyelonephritis ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20178460|REF_RGD_ID:7207160 11673339 RETN resistin gene DOID:11714 gestational diabetes ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19408175|REF_RGD_ID:2307186 11673339 RETN resistin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA, protein:SNP, increased expression:promoter, serum:-420G>C (rs1862513) (human) PMID:20171599|REF_RGD_ID:7207251 11673339 RETN resistin gene DOID:4676 uremia ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:adipose tissue PMID:23058473|REF_RGD_ID:7207071 11673339 RETN resistin gene DOID:5844 myocardial infarction ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18997620|REF_RGD_ID:7207152 11673339 RETN resistin gene DOID:6000 congestive heart failure ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 11673339 RETN resistin gene DOID:6000 congestive heart failure ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Coronary Disease PMID:22240747|REF_RGD_ID:7207075 11673339 RETN resistin gene DOID:783 end stage renal disease ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 11673339 RETN resistin gene DOID:783 end stage renal disease severity ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22421264|REF_RGD_ID:7207074 11673339 RETN resistin gene DOID:784 chronic kidney disease ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22421264 11673339 RETN resistin gene DOID:8947 diabetic retinopathy ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:17303077|REF_RGD_ID:7207162 11673339 RETN resistin gene DOID:9000528 Coronary Disease ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:17175295|REF_RGD_ID:7207156 11673339 RETN resistin gene DOID:9001542 Albuminuria ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:blood PMID:20203628|REF_RGD_ID:7207150 11673339 RETN resistin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349693 D RGD:9068941 20200609 RGD PMID:21425555|REF_RGD_ID:7207159 11673339 RETN resistin gene DOID:9004484 Sepsis ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19545363|REF_RGD_ID:7207151 11673339 RETN resistin gene DOID:9006359 Vitamin D Deficiency ISO RGD:628781 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21994008|REF_RGD_ID:7207230 11673339 RETN resistin gene DOID:9006646 Metabolic Syndrome ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18328350 11673339 RETN resistin gene DOID:9006646 Metabolic Syndrome ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-420C>G (human) PMID:17598818|REF_RGD_ID:7207155 11673339 RETN resistin gene DOID:9007096 Stroke ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:promoter:-420G>C (rs1862513) (human) PMID:19269054|REF_RGD_ID:2313497 11673339 RETN resistin gene DOID:9007692 Insulin Resistance ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16493877 11673339 RETN resistin gene DOID:9007692 Insulin Resistance ISO RGD:1349693 D RGD:9068941 20200609 RGD PMID:18789551|REF_RGD_ID:2313499 11673339 RETN resistin gene DOID:9074 systemic lupus erythematosus ISO RGD:1349693 D RGD:9068941 20200609 RGD PMID:21885493|REF_RGD_ID:7207148 11673339 RETN resistin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO PMID:11558907|PMID:12629116 11673339 RETN resistin gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-394C>G, -420G>C (rs1862513) (human) PMID:19381781|REF_RGD_ID:2313495 11673339 RETN resistin gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1349693 D RGD:7240710 20230505 OMIM 11673339 RETN resistin gene DOID:9743 diabetic neuropathy ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:17919381|REF_RGD_ID:7207161 11673339 RETN resistin gene DOID:9744 type 1 diabetes mellitus ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:15523596|REF_RGD_ID:7207163 11673339 RETN resistin gene DOID:9970 obesity ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-420C>G (human) PMID:17598818|REF_RGD_ID:7207155 11673339 RETN resistin gene DOID:9970 obesity ISO RGD:1349693 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:subcutaneous adipose tissue, serum PMID:22816026|REF_RGD_ID:7207072 11673339 RETN resistin gene DOID:9970 obesity ISO RGD:730829 D RGD:9068941 20200609 RGD PMID:11201732|REF_RGD_ID:7207158 11673339 RETN resistin gene DOID:9976 heroin dependence ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15717844 11673348 FCGR1A Fc gamma receptor Ia gene DOID:0110243 cataract 46 juvenile-onset ISO RGD:1320511 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cataract 46 juvenile-onset PMID:29464339|PMID:31690835 11673348 FCGR1A Fc gamma receptor Ia gene DOID:1540 parathyroid carcinoma ISO RGD:1320511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11673348 FCGR1A Fc gamma receptor Ia gene DOID:182 calcinosis ISO RGD:1320511 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11673348 FCGR1A Fc gamma receptor Ia gene DOID:4079 heart valve disease ISO RGD:1320511 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 11673348 FCGR1A Fc gamma receptor Ia gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320511 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 11673348 FCGR1A Fc gamma receptor Ia gene DOID:7148 rheumatoid arthritis ISO RGD:1320511 D RGD:9068941 20200611 RGD protein:increased expression:synovial joint: PMID:16670289|REF_RGD_ID:9685708 11673348 FCGR1A Fc gamma receptor Ia gene DOID:8466 retinal degeneration ISO RGD:1309912 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320511 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9002211 Hyperalgesia ameliorates ISO RGD:1309912 D RGD:9068941 20210709 RGD PMID:32510872|REF_RGD_ID:127338469 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9002457 Experimental Arthritis ISO RGD:10573 D RGD:9068941 20200611 CTD CTD Direct Evidence: marker/mechanism PMID:12875993 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9002457 Experimental Arthritis ISO RGD:1309912 D RGD:9068941 20210709 RGD protein:increased expression:dorsal root ganglion PMID:32510872|REF_RGD_ID:127338469 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9002457 Experimental Arthritis ISO RGD:1320511 D RGD:9068941 20200611 RGD PMID:16670289|REF_RGD_ID:9685708 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9004610 Acute Lung Injury ISO RGD:1309912 D RGD:9068941 20200611 RGD PMID:19106808|REF_RGD_ID:5147925 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:1309912 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1320511 D RGD:9068941 20200611 RGD PMID:22402584|REF_RGD_ID:9685699 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9006862 PERITONEAL GLIOMATOSIS ISO RGD:1320511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peritoneal Gliomatosis 11673348 FCGR1A Fc gamma receptor Ia gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0060450 Lisch epithelial corneal dystrophy ISO RGD:1319026 D RGD:7240710 20240403 OMIM 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0060450 Lisch epithelial corneal dystrophy ISO RGD:1319026 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Lisch epithelial corneal dystrophy PMID:11030752|PMID:11317355|PMID:12182165|PMID:1621784|PMID:21763169|PMID:25119295|PMID:25741868|PMID:28492532|PMID:33454187|PMID:37972748 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0080488 mucolipidosis ISO RGD:1319026 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Mucolipidosis PMID:10441585|PMID:10973263|PMID:11013137|PMID:11030752|PMID:11317355|PMID:11551108|PMID:11845410|PMID:15523648|PMID:16287144|PMID:16645217|PMID:17384215|PMID:19815695|PMID:23555759|PMID:24033266|PMID:25741868|PMID:28492532|PMID:37972748|PMID:9450896 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1319026 D RGD:7240710 20190227 OMIM 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1319026 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:10441585|PMID:10973263|PMID:11013137|PMID:11030752|PMID:11317355|PMID:11551108|PMID:11845410|PMID:12125810|PMID:12182165|PMID:14749347|PMID:15178326|PMID:15523648|PMID:16199547|PMID:16257972|PMID:16287144|PMID:16645217|PMID:16978393|PMID:17239335|PMID:17306511|PMID:17384215|PMID:17576681|PMID:18326692|PMID:18794901|PMID:19815695|PMID:20159435|PMID:21763169|PMID:22268962|PMID:22281206|PMID:23555759|PMID:23685283|PMID:24033266|PMID:25119295|PMID:25465891|PMID:25741868|PMID:25933391|PMID:26467025|PMID:27670435|PMID:28112729|PMID:28492532|PMID:28604674|PMID:28936784|PMID:29019983|PMID:30120981|PMID:31578829|PMID:31618753|PMID:31623504|PMID:31899079|PMID:32214227|PMID:32860008|PMID:33454187|PMID:33963976|PMID:35425852|PMID:36344503|PMID:37972748|PMID:9536098 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1319026 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:10441585|PMID:10973263|PMID:11013137|PMID:11030752|PMID:11317355|PMID:11551108|PMID:11845410|PMID:12125810|PMID:12182165|PMID:14749347|PMID:15178326|PMID:15523648|PMID:16199547|PMID:16257972|PMID:16287144|PMID:16645217|PMID:16978393|PMID:17239335|PMID:17306511|PMID:17384215|PMID:17576681|PMID:18326692|PMID:18794901|PMID:19815695|PMID:20159435|PMID:21228398|PMID:21763169|PMID:22268962|PMID:22281206|PMID:23555759|PMID:23685283|PMID:24033266|PMID:25119295|PMID:25465891|PMID:25741868|PMID:25933391|PMID:26467025|PMID:27670435|PMID:28112729|PMID:28492532|PMID:28604674|PMID:28936784|PMID:29019983|PMID:30120981|PMID:31578829|PMID:31618753|PMID:31623504|PMID:31899079|PMID:32036093|PMID:32214227|PMID:32860008|PMID:33454187|PMID:33963976|PMID:35425852|PMID:36139381|PMID:36344503|PMID:37972748|PMID:38532569|PMID:9450896|PMID:9536098 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:25741868|PMID:26467025|PMID:28492532 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:25741868 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:0111265 Boucher-Neuhauser syndrome ISO RGD:1319026 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome PMID:25741868|PMID:26467025|PMID:28492532 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:1059 intellectual disability ISO RGD:1319026 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:11030752|PMID:11317355|PMID:16199547|PMID:28492532|PMID:31623504 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:13088 periventricular leukomalacia ISO RGD:1319026 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia PMID:11030752|PMID:11317355|PMID:16199547|PMID:28492532|PMID:31623504 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:25741868|PMID:26467025|PMID:28492532 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:3021 acute kidney failure ISO RGD:1319026 D RGD:9068941 20241003 CTD CTD Direct Evidence: therapeutic PMID:38097005 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:3343 glycoproteinosis ISO RGD:1319026 D RGD:9068941 20200609 RGD PMID:10973263|REF_RGD_ID:1599926 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:630 genetic disease ISO RGD:1319026 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10973263|PMID:11030752|PMID:11317355|PMID:14749347|PMID:15178326|PMID:16978393|PMID:17239335|PMID:17576681|PMID:18326692|PMID:18794901|PMID:21763169|PMID:25119295|PMID:25741868|PMID:25933391|PMID:27670435|PMID:28492532|PMID:31618753|PMID:31899079|PMID:37972748|PMID:9450896|PMID:9536098 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:8501 fundus dystrophy ISO RGD:1319026 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:32036093|PMID:36139381|PMID:38532569 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:9006257 Growth Disorders ISO RGD:1319026 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:11030752|PMID:11317355|PMID:16199547|PMID:28492532|PMID:31623504 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 11673368 MCOLN1 mucolipin TRP cation channel 1 gene DOID:9008606 Corneal Opacity ISO RGD:1319026 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Corneal opacity PMID:11030752|PMID:11317355|PMID:16199547|PMID:28492532|PMID:31623504 11673386 F2R coagulation factor II thrombin receptor gene DOID:10591 pre-eclampsia ISO RGD:735960 D RGD:9068941 20230427 RGD PMID:12161502|REF_RGD_ID:1581033 11673386 F2R coagulation factor II thrombin receptor gene DOID:2237 hepatitis ISO RGD:735960 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21907177 11673386 F2R coagulation factor II thrombin receptor gene DOID:5082 liver cirrhosis ISO RGD:735960 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:21037076 11673386 F2R coagulation factor II thrombin receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:735960 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11673386 F2R coagulation factor II thrombin receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735960 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11673386 F2R coagulation factor II thrombin receptor gene DOID:9002170 Experimental Neoplasms ISO RGD:735960 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:17374729 11673386 F2R coagulation factor II thrombin receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735960 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11673386 F2R coagulation factor II thrombin receptor gene DOID:9005372 Inflammation ISO RGD:735960 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:20008134 11673386 F2R coagulation factor II thrombin receptor gene DOID:9452 steatotic liver disease ISO RGD:735960 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism PMID:20008134|PMID:21907177|PMID:22841818 11673392 NT5C 5', 3'-nucleotidase, cytosolic gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:22018461|REF_RGD_ID:7495770 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0060180 colitis treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:17543437|REF_RGD_ID:2298659 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0090039 torsion dystonia 6 ISO RGD:733968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111959 immunodeficiency 15B ISO RGD:733968 D RGD:7240710 20180130 OMIM 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111959 immunodeficiency 15B ISO RGD:733968 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:10195897|PMID:16199547|PMID:17576681|PMID:24033266|PMID:24369075|PMID:24679846|PMID:25139357|PMID:25216719|PMID:25741868|PMID:26122175|PMID:28492532|PMID:30335863|PMID:30337470|PMID:32117824|PMID:9536098 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111960 immunodeficiency 15A ISO RGD:733968 D RGD:7240710 20190315 OMIM 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111960 immunodeficiency 15A ISO RGD:733968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15a PMID:24033266|PMID:25741868|PMID:28492532|PMID:30337470 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10283 prostate cancer ISO RGD:733968 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:prostate gland PMID:26435478|REF_RGD_ID:13504773 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10487 Hirschsprung's disease ISO RGD:733968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10603 glucose intolerance ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31095431 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:621375 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:24380241|REF_RGD_ID:10045941 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10763 hypertension ISO RGD:733968 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27659729|PMID:32147540 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10763 hypertension treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:19246475|REF_RGD_ID:7495780 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:1612 breast cancer susceptibility ISO RGD:733968 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:22562547|REF_RGD_ID:6484541 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:178 vascular disease ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29036520 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:219 colon cancer ISO RGD:621375 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:large intestine mucosa PMID:20143392|REF_RGD_ID:7495781 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:224 transient cerebral ischemia treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:24261295|REF_RGD_ID:7495766 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:733968 D RGD:9068941 20200609 RGD PMID:27196761|REF_RGD_ID:13504772 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:2723 dermatitis ISO RGD:733968 D RGD:9068941 20200609 RGD PMID:20200541|REF_RGD_ID:7495759 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:2723 dermatitis ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:12075355|REF_RGD_ID:7495756 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:3498 pancreatic ductal adenocarcinoma susceptibility ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:22264792|REF_RGD_ID:13838741 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:16286924|REF_RGD_ID:10045955 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:3571 liver cancer ISO RGD:733968 D RGD:9068941 20220811 RGD human cells in mouse model PMID:27367027|REF_RGD_ID:153305911 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:4989 pancreatitis treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:17525799|REF_RGD_ID:10045954 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:552 pneumonia ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31095431 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:552 pneumonia treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:20080200|REF_RGD_ID:7495767 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:627 severe combined immunodeficiency ISO RGD:733968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:630 genetic disease ISO RGD:733968 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:767 muscular atrophy treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:18827022|REF_RGD_ID:7495773 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:8893 psoriasis ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:16397523|REF_RGD_ID:7495754 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:24489934|REF_RGD_ID:10045942 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002221 Hyperplasia ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:15939736|REF_RGD_ID:7495757 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002457 Experimental Arthritis ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:19652024|REF_RGD_ID:7495778 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002457 Experimental Arthritis ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:19652024|REF_RGD_ID:7495778 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002457 Experimental Arthritis treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:21087862|REF_RGD_ID:7495772 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002532 Neonatal Hyperbilirubinemia ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28167773 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004078 Pancreatic Intraepithelial Neoplasia disease_progression ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:22056382|REF_RGD_ID:13838742 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004078 Pancreatic Intraepithelial Neoplasia severity ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:22406536|REF_RGD_ID:13838740 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004118 Experimental Melanoma ISO RGD:733968 D RGD:9068941 20200609 RGD PMID:19276165|REF_RGD_ID:7495758 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004283 Transplant Rejection ISO RGD:621375 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19249479|REF_RGD_ID:7495769 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004283 Transplant Rejection treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:20500684|REF_RGD_ID:4892204 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9005372 Inflammation ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29036520 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621375 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver PMID:20362663|REF_RGD_ID:7495777 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:19546526|REF_RGD_ID:7495779 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9007692 Insulin Resistance ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29036520 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9007692 Insulin Resistance ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:11533494|REF_RGD_ID:10045961 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9007692 Insulin Resistance treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:19073766|REF_RGD_ID:7495768 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:733968 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:10195897|PMID:16199547|PMID:17576681|PMID:24033266|PMID:24369075|PMID:24679846|PMID:25139357|PMID:25216719|PMID:25741868|PMID:26122175|PMID:28492532|PMID:30335863|PMID:30337470|PMID:32117824|PMID:9536098 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:733968 D RGD:9068941 20200609 RGD PMID:15685173|REF_RGD_ID:10045952 11673399 IKBKB inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9970 obesity ISO RGD:733969 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:15685173|REF_RGD_ID:10045952 11673437 IBSP integrin binding sialoprotein gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:735575 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868|PMID:28492532 11673437 IBSP integrin binding sialoprotein gene DOID:9000965 Neoplasm Metastasis ISO RGD:735575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407340|PMID:24980816 11673437 IBSP integrin binding sialoprotein gene DOID:9006081 Osteolysis ISO RGD:735575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407340 11673437 IBSP integrin binding sialoprotein gene DOID:9008939 Breast Neoplasms ISO RGD:735575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24980816 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0050891 adrenal cortical adenoma ISO RGD:735332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma PMID:23416519 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:735332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0111558 Charcot-Marie-Tooth disease type 2DD ISO RGD:735332 D RGD:7240710 20190315 OMIM 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0111558 Charcot-Marie-Tooth disease type 2DD ISO RGD:735332 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: ATP1A1-related condition | ClinVar Annotator: match by term: Charcot-marie-tooth disease, axonal, type 2DD PMID:17576681|PMID:21208200|PMID:21494555|PMID:25741868|PMID:28492532|PMID:28714951|PMID:29499166|PMID:30388404|PMID:31332282|PMID:31705535|PMID:31707753|PMID:31785789|PMID:37712079|PMID:7977350|PMID:8526465|PMID:8981948|PMID:9536098 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10003 sensorineural hearing loss ISO RGD:2167 D RGD:9068941 20200609 RGD protein:decreased expression:cochlea: PMID:23827367|REF_RGD_ID:7349365 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10283 prostate cancer ISO RGD:735332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:1059 intellectual disability ISO RGD:735332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10763 hypertension ISO RGD:2167 D RGD:9068941 20200609 RGD PMID:8082931|REF_RGD_ID:1579862 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10763 hypertension ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:3426 vestibular disease ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21269433 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:440 neuromuscular disease ISO RGD:735332 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:25741868 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:446 primary hyperaldosteronism ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:5844 myocardial infarction ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29702141 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:630 genetic disease ISO RGD:735332 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:657 adenoma ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519|PMID:23913004 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9004551 Charcot-Marie-Tooth Disease Type 2A2 ISO RGD:735332 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 PMID:21208200|PMID:21494555|PMID:25741868|PMID:28492532|PMID:29499166|PMID:30388404|PMID:31705535|PMID:31707753|PMID:37712079|PMID:7977350|PMID:8526465|PMID:8981948 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9006615 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 ISO RGD:735332 D RGD:7240710 20190315 OMIM 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9006615 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 ISO RGD:735332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 2 PMID:25741868|PMID:28492532|PMID:30388404 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:735332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29702141 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9008817 Transmissible Gastroenteritis, of Swine ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28438630 11673448 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:2167 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:23467881|REF_RGD_ID:11576285 11673474 LOC100993012 olfactory receptor 8B12 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1350337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11673474 LOC100993012 olfactory receptor 8B12 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1350337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11673474 LOC100993012 olfactory receptor 8B12 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1350337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11673474 LOC100993012 olfactory receptor 8B12 gene DOID:5419 schizophrenia ISO RGD:1350337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11673474 LOC100993012 olfactory receptor 8B12 gene DOID:9007661 Dwarfism ISO RGD:1350337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11673477 DNAJC9 DnaJ heat shock protein family (Hsp40) member C9 gene DOID:9009141 Joubert Syndrome 36 ISO RGD:1312781 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Joubert syndrome 36 PMID:25741868 11673492 SDAD1 SDA1 domain containing 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1353066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 11673523 NEIL3 nei like DNA glycosylase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1352319 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11673523 NEIL3 nei like DNA glycosylase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352319 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 11673523 NEIL3 nei like DNA glycosylase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11673546 WFDC10B WAP four-disulfide core domain 10B gene DOID:2234 focal epilepsy ISO RGD:1343114 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11673546 WFDC10B WAP four-disulfide core domain 10B gene DOID:5810 adenosine deaminase deficiency ISO RGD:1343114 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:26255240|PMID:26376800|PMID:28492532 11673546 WFDC10B WAP four-disulfide core domain 10B gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1343114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1306201 D RGD:9068941 20240201 RGD mRNA:increased expression:liver (rat) PMID:31805951|REF_RGD_ID:401960876 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease disease_progression ISO RGD:1314683 D RGD:9068941 20240201 RGD mRNA:increased expression:liver (human) PMID:35312185|PMID:36034446|REF_RGD_ID:401960878|REF_RGD_ID:401960879 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:1314684 D RGD:9068941 20240201 RGD PMID:31397492|REF_RGD_ID:401960873 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:1612 breast cancer ameliorates ISO RGD:1314683 D RGD:9068941 20240201 RGD protein:decreased expression:breast (human) PMID:34606580|REF_RGD_ID:401960874 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:4450 renal cell carcinoma ISO RGD:1306201 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:10854235|REF_RGD_ID:1626565 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:630 genetic disease ISO RGD:1314683 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9000217 Stomach Neoplasms ISO RGD:1314683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9000951 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis ISO RGD:1314683 D RGD:7240710 20180130 OMIM 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9000951 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis ISO RGD:1314683 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravascular pulmonic stenosis PMID:12441727|PMID:21835307|PMID:25741868 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1306201 D RGD:9068941 20240229 RGD PMID:25691930|REF_RGD_ID:401976485 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314683 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12592389 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:1314683 D RGD:9068941 20240201 RGD protein:increased expression:plasma (human) PMID:25543030|REF_RGD_ID:401960875 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9007692 Insulin Resistance ISO RGD:1314683 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16873698|REF_RGD_ID:1626516 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9007692 Insulin Resistance ISO RGD:1314684 D RGD:9068941 20240201 RGD associated with metabolic dysfunction-associated steatotic liver disease PMID:31397492|REF_RGD_ID:401960873 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9007730 Burns ISO RGD:1306201 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11742840|REF_RGD_ID:1626551 11673612 IGFBP7 insulin like growth factor binding protein 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1314683 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12592389 11673633 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:0110935 nemaline myopathy 6 ISO RGD:1344589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11673633 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:10652 Alzheimer's disease ISO RGD:1344589 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 11673633 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11673633 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:2717 Bloom syndrome ISO RGD:1344589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11673633 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:3393 coronary artery disease ISO RGD:1344589 D RGD:9068941 20200609 RGD DNA:SNP:CDS:p.F217L (rs1047552) (human) PMID:18987747|REF_RGD_ID:13703124 11673633 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:9003284 HIV Seropositivity susceptibility ISO RGD:1344589 D RGD:9068941 20200609 RGD DNA:SNP:CDS:p.F217L (rs1047552) (human) PMID:19774691|REF_RGD_ID:13703126 11673633 APH1B aph-1 homolog B, gamma-secretase subunit gene DOID:9256 colorectal cancer ISO RGD:1344589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11673643 MFSD6 major facilitator superfamily domain containing 6 gene DOID:0111944 immunodeficiency 31B ISO RGD:1603217 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 11673643 MFSD6 major facilitator superfamily domain containing 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11673660 UBN2 ubinuclein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:2302451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28263302 11673660 UBN2 ubinuclein 2 gene DOID:0080690 RASopathy ISO RGD:2302451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 11673660 UBN2 ubinuclein 2 gene DOID:0110488 autosomal recessive nonsyndromic deafness 3 ISO RGD:2302451 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 3 PMID:25741868 11673660 UBN2 ubinuclein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2302451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11673691 COPS7A COP9 signalosome subunit 7A gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1320761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 11673691 COPS7A COP9 signalosome subunit 7A gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1320761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 11673691 COPS7A COP9 signalosome subunit 7A gene DOID:0111621 Temtamy syndrome ISO RGD:1320761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 11673691 COPS7A COP9 signalosome subunit 7A gene DOID:9000217 Stomach Neoplasms ISO RGD:1320761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11673691 COPS7A COP9 signalosome subunit 7A gene DOID:9000918 Disease Progression ISO RGD:1320761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11673691 COPS7A COP9 signalosome subunit 7A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1320761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:0060230 basal ganglia calcification ISO RGD:1320365 D RGD:9068941 20241226 MouseDO OMIM:114100 | OMIM:213600 | OMIM:615007 | OMIM:615483 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1320364 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:0080942 anauxetic dysplasia ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:607 paraplegia ISO RGD:1320364 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:23332916|PMID:23332917|PMID:28492532 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:630 genetic disease ISO RGD:1320364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:9007487 Idiopathic Basal Ganglia Calcification 7 ISO RGD:1320364 D RGD:7240710 20190315 OMIM 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:9007487 Idiopathic Basal Ganglia Calcification 7 ISO RGD:1320364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | ClinVar Annotator: match by term: MYORG-related condition PMID:25741868|PMID:28492532|PMID:29910000|PMID:30460687|PMID:30589467|PMID:30649222|PMID:30656188|PMID:31009047|PMID:31440850|PMID:31951047|PMID:32211515 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320364 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 11673722 MYORG myogenesis regulating glycosidase (putative) gene DOID:9870 galactosemia ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 11673730 PRRC2A proline rich coiled-coil 2A gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1350670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11673730 PRRC2A proline rich coiled-coil 2A gene DOID:11372 megacolon ISO RGD:1350670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 11673730 PRRC2A proline rich coiled-coil 2A gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:1350670 D RGD:9068941 20200609 RGD DNA:haplotype: :rs11538264(human) PMID:25111513|REF_RGD_ID:14390152 11673730 PRRC2A proline rich coiled-coil 2A gene DOID:9744 type 1 diabetes mellitus ISO RGD:1350670 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15842729|REF_RGD_ID:2306963 11673730 PRRC2A proline rich coiled-coil 2A gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1350670 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:10987645|REF_RGD_ID:2306964 11673769 MMADHC metabolism of cobalamin associated D gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1346733 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:16199547|PMID:18385497|PMID:22156578|PMID:25155779|PMID:25741868|PMID:28492532|PMID:32252256|PMID:33552904 11673769 MMADHC metabolism of cobalamin associated D gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1346733 D RGD:7240710 20180130 OMIM 11673769 MMADHC metabolism of cobalamin associated D gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1346733 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD PMID:15292234|PMID:16199547|PMID:17576681|PMID:18385497|PMID:19058814|PMID:22156578|PMID:2339678|PMID:24033266|PMID:25155779|PMID:25741868|PMID:27252276|PMID:28492532|PMID:28939051|PMID:29620684|PMID:32252256|PMID:33552904|PMID:5524089|PMID:9536098 11673769 MMADHC metabolism of cobalamin associated D gene DOID:630 genetic disease ISO RGD:1346733 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 11673769 MMADHC metabolism of cobalamin associated D gene DOID:655 inherited metabolic disorder ISO RGD:1346733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:24033266|PMID:25741868|PMID:28492532 11673769 MMADHC metabolism of cobalamin associated D gene DOID:9009058 methylmalonic acidemia cblD type ISO RGD:1346733 D RGD:7240710 20241009 OMIM 11673769 MMADHC metabolism of cobalamin associated D gene DOID:9009058 methylmalonic acidemia cblD type ISO RGD:1346733 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, cblD TYPE PMID:15292234|PMID:18385497|PMID:2339678|PMID:25741868 11673769 MMADHC metabolism of cobalamin associated D gene DOID:9009229 Homocystinuria-megaloblastic anemia cblD type ISO RGD:1346733 D RGD:7240710 20241009 OMIM 11673769 MMADHC metabolism of cobalamin associated D gene DOID:9009229 Homocystinuria-megaloblastic anemia cblD type ISO RGD:1346733 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblD TYPE PMID:15292234|PMID:18385497|PMID:22156578|PMID:25155779|PMID:25741868|PMID:28492532 11673781 TLK1 tousled like kinase 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1321237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11673781 TLK1 tousled like kinase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1321237 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 11673781 TLK1 tousled like kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321237 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11673781 TLK1 tousled like kinase 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1321237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17481512 11673809 PLA2G2C phospholipase A2 group IIC gene DOID:0060369 Parkinson's disease 6 ISO RGD:1349993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 11673809 PLA2G2C phospholipase A2 group IIC gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1349993 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11673809 PLA2G2C phospholipase A2 group IIC gene DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ISO RGD:1349993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11673809 PLA2G2C phospholipase A2 group IIC gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1349993 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 11673809 PLA2G2C phospholipase A2 group IIC gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1349993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 11673815 NKX2-8 NK2 homeobox 8 gene DOID:0080016 spina bifida ISO RGD:12245875 D RGD:9068941 20230615 OMIA Spinal dysraphism PMID:1641930|PMID:22843830|PMID:23874236|PMID:26725976|PMID:375559|PMID:4434313|PMID:4732250|PMID:5023160|PMID:5318050|PMID:5339905|PMID:5893238|PMID:6756221|PMID:6756222|PMID:8578905 11673815 NKX2-8 NK2 homeobox 8 gene DOID:12859 choreatic disease ISO RGD:1321643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 11673815 NKX2-8 NK2 homeobox 8 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 11673840 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605959 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11673840 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:0111079 birdshot chorioretinopathy ISO RGD:1605959 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36013011 11673840 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:13129 severe pre-eclampsia severity ISO RGD:1605959 D RGD:9068941 20230525 RGD mRNA:increased expression:decidua basalis (human) PMID:24331737|REF_RGD_ID:329845529 11673840 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:3482 plague ISO RGD:1605959 D RGD:9068941 20221103 CTD CTD Direct Evidence: therapeutic PMID:36261521 11673840 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:7147 ankylosing spondylitis ISO RGD:1605959 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:33550689 11673840 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:8778 Crohn's disease ISO RGD:1605959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 11673840 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11673840 ERAP2 endoplasmic reticulum aminopeptidase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605959 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0050589 inflammatory bowel disease ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:17111197|REF_RGD_ID:10449410 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0050745 diffuse large B-cell lymphoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) PMID:17712558|REF_RGD_ID:6893517 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0050830 peripheral artery disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:transition:cds:g.677C>T (human) PMID:16274479|REF_RGD_ID:6893659 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:20162297|REF_RGD_ID:8693343 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (human) PMID:16365753|REF_RGD_ID:10449416 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0050873 follicular lymphoma ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16410450 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0060041 autism spectrum disorder ISO RGD:733483 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0060058 lymphoma ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799656 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17488658 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0060326 myelomeningocele ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16602021 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733483 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0060770 dextro-looped transposition of the great arteries susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: : rs1801133(human) PMID:22868813|REF_RGD_ID:11565105 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0060903 thrombosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:10780318|REF_RGD_ID:10449414 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0070004 myeloid neoplasm ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C (human) PMID:23107469|REF_RGD_ID:10449419 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27713094 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:15022402|REF_RGD_ID:11565178 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:12797455|REF_RGD_ID:11565104 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:10791559|REF_RGD_ID:6893455 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080074 neural tube defect ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25736335|PMID:25741868 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080074 neural tube defect susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:8826441|REF_RGD_ID:11565102 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080177 hepatic veno-occlusive disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:24583625|REF_RGD_ID:14696752 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080178 mucositis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17488658 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A > C (human) PMID:24488901|REF_RGD_ID:14696706 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:17563923|REF_RGD_ID:14696748 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:733483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0081267 graft-versus-host disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16518429 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0081267 graft-versus-host disease treatment ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19005482|REF_RGD_ID:6893635 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:733483 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT | ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:10196703|PMID:10323741|PMID:10440833|PMID:10679944|PMID:10732818|PMID:10869114|PMID:10923034|PMID:10930360|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11710708|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:16172608|PMID:16199547|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25079578|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25736335|PMID:25741868|PMID:25778468|PMID:26025547|PMID:26872964|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29246599|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:33089527|PMID:34214447|PMID:35322348|PMID:35499206|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:0111907 thrombophilia due to thrombin defect susceptibility ISO RGD:733483 D RGD:7240710 20241218 OMIM 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10024 migraine with aura susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:21635773|REF_RGD_ID:7387244 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10159 osteonecrosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:SNP: :677C>T (human) PMID:9840906|REF_RGD_ID:10449417 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10283 prostate cancer ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10534 stomach cancer no_association ISO RGD:733483 D RGD:9068941 20200814 RGD DNA:missense mutation:cds:g.677C>T (human) PMID:23183616|PMID:24615072|REF_RGD_ID:38501052|REF_RGD_ID:38501056 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10548 cardia cancer no_association ISO RGD:733483 D RGD:9068941 20200813 RGD associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human) PMID:24615072|REF_RGD_ID:38501052 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1059 intellectual disability ISO RGD:733483 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12733064|PMID:25736335|PMID:25741868|PMID:26025547|PMID:28492532|PMID:7726158 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10652 Alzheimer's disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1067 open-angle glaucoma no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: : 677C>T, 1298A>C (human) PMID:17558844|REF_RGD_ID:7387254 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:15808177|REF_RGD_ID:7387252 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1074 kidney failure ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:20433440|REF_RGD_ID:6893515 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs1801133(human) PMID:22065928|REF_RGD_ID:7387224 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10923 sickle cell anemia no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:22924497|REF_RGD_ID:10449403 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10923 sickle cell anemia no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:20113291|REF_RGD_ID:10449420 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:10923 sickle cell anemia severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:22924497|REF_RGD_ID:10449403 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C,677C>T(human) PMID:21819229|REF_RGD_ID:11565109 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :1298A>C(human) PMID:21897766|REF_RGD_ID:11565107 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22747749 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer no_association ISO RGD:733483 D RGD:9068941 20200609 RGD protein:missense mutation:cds:p.A222V (human) PMID:17311259|REF_RGD_ID:6893597 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) PMID:20146887|REF_RGD_ID:6893516 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:22126575|REF_RGD_ID:6893457 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transversion:cds:g.1298A>C (human) PMID:19837268|REF_RGD_ID:6893521 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11166 papillomavirus infectious disease no_association ISO RGD:733483 D RGD:9068941 20200814 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:23444906|REF_RGD_ID:38501058 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11512 Budd-Chiari syndrome ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition: :677C>T (human) PMID:12221667|REF_RGD_ID:10449395 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11512 Budd-Chiari syndrome susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:26238013|REF_RGD_ID:11537993 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11664 nephrosclerosis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:21613384|REF_RGD_ID:6893469 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11695 portal vein thrombosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:25987440|PMID:27221722|REF_RGD_ID:14696705|REF_RGD_ID:14696749 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11713 diabetic angiopathy ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16681562 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:11836 clubfoot ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16936070 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1205 allergic disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16766537 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:12134 factor VIII deficiency no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:22411997|REF_RGD_ID:10449409 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:12134 factor VIII deficiency severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:22411997|REF_RGD_ID:10449409 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1227 neutropenia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19391036 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:12336 male infertility ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861746 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:12336 male infertility susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:16247718|REF_RGD_ID:11565106 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:12361 Graves' disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:20941748|REF_RGD_ID:7387246 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:12849 autistic disorder ISO RGD:733483 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Autistic disorder of childhood onset PMID:28492532 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1287 cardiovascular system disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16958597|PMID:25050994 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1287 cardiovascular system disease ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:12187094|REF_RGD_ID:1580585 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:13001 carotid stenosis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs1801133, c.677C>T, p.A222V, in men only PMID:15748240|REF_RGD_ID:5509914 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T,1298A>C(human) PMID:19936026|REF_RGD_ID:7387250 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:25987440|REF_RGD_ID:14696749 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:14250 Down syndrome ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16353284|PMID:16489479|PMID:16845273|PMID:17431899 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:14250 Down syndrome susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs:cds:c.677C>T,c.1298A>C (human) PMID:16489479|REF_RGD_ID:11565177 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:14330 Parkinson's disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30726997 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1459 hypothyroidism ISO RGD:1309952 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:7990714|REF_RGD_ID:6893690 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1588 thrombocytopenia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19391036 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1588 thrombocytopenia ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :1298A>C (human) PMID:23498762|REF_RGD_ID:10449418 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1588 thrombocytopenia no_association ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :677C>T, 1793G>A (human) PMID:23498762|REF_RGD_ID:10449418 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1596 depressive disorder ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17074966 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1682 congenital heart disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16524890 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1727 retinal vein occlusion no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C(human) PMID:23289804|REF_RGD_ID:10449405 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1727 retinal vein occlusion no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (human) PMID:24250697|REF_RGD_ID:10449421 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:10485556|REF_RGD_ID:7387256 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:17627246|REF_RGD_ID:6893580 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:178 vascular disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19646848 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T (human) PMID:16737574|REF_RGD_ID:2317120 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1936 atherosclerosis severity ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; DNA:transversion:cds:g.1298A>C (human) PMID:17899317|REF_RGD_ID:6893579 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:1984 rectal benign neoplasm severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:21865946|REF_RGD_ID:6893664 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2043 hepatitis B no_association ISO RGD:733483 D RGD:9068941 20200820 RGD DNA:missense mutations:cds:g.1298A>C, g.2756A>G PMID:18222012|REF_RGD_ID:38508898 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2043 hepatitis B susceptibility ISO RGD:733483 D RGD:9068941 20200820 RGD DNA:transition:cds:g.677C>T (human) PMID:18222012|REF_RGD_ID:38508898 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2154 nephroblastoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19346876|REF_RGD_ID:6893546 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2316 brain ischemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15534175 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2355 anemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19391036|PMID:25007187 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2355 anemia susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma; DNA:SNP:: rs1801133(human) PMID:25007187|REF_RGD_ID:11080979 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2388 renal artery disease ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:16760910|REF_RGD_ID:2313876 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2452 thrombophilia ISO RGD:733483 D RGD:9068941 20200730 CTD CTD Direct Evidence: marker/mechanism PMID:17493413 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2452 thrombophilia ISO RGD:733483 D RGD:9068941 20200730 RGD associated with Liver Cirrhosis, Biliary;DNA:SNP: :677C>T (human) PMID:16570355|REF_RGD_ID:10449396 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2671 transitional cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transversion:cds:g.1298A>C (human) PMID:21046286|REF_RGD_ID:6893477 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2841 asthma ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:20456312|REF_RGD_ID:4891145 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2921 glomerulonephritis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:22111818|REF_RGD_ID:6893468 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:2987 familial Mediterranean fever susceptibility ISO RGD:733483 D RGD:9068941 20200813 RGD DNA:missense mutations:cds:g.677C>T (rs1801133), g.1298A>C (rs1801131) (human) PMID:28543752|REF_RGD_ID:38501050 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:3021 acute kidney failure ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17387702 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:319 spinal cord disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16361298 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:326 ischemia susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Retinal Vein Occlusion;DNA:SNP:cds:677C>T(human) PMID:17719079|REF_RGD_ID:7387251 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:3312 bipolar disorder ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17074966 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:332 amyotrophic lateral sclerosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.677C>T(human) PMID:21868135|REF_RGD_ID:11565173 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.677C>T(human) PMID:21128869|REF_RGD_ID:11565111 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:3347 osteosarcoma treatment ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19159907|REF_RGD_ID:6893634 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:3393 coronary artery disease no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:15648053|REF_RGD_ID:1580579 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:3393 coronary artery disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:12387655|REF_RGD_ID:6893453 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:3393 coronary artery disease susceptibility ISO RGD:733483 D RGD:9068941 20231026 RGD DNA:SNPs: (rs1801133, rs4846049) (Human) PMID:24315498|REF_RGD_ID:401850782 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:3526 cerebral infarction ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:10929044|REF_RGD_ID:1580590 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:3572 intracranial sinus thrombosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18941937 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:37 skin disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17548696 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:409 liver disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16877991 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:4247 coronary restenosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16489563 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:4362 cervical cancer susceptibility ISO RGD:733483 D RGD:9068941 20200813 RGD DNA:missense mutation:cds:g.1298A>C (human) PMID:27771518|REF_RGD_ID:38501051 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A222V (rs1801133) (human) PMID:18098291|REF_RGD_ID:6893654 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:20039875|REF_RGD_ID:6893632 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:4467 clear cell renal cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:21489764|REF_RGD_ID:6893474 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:4947 cholangiocarcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17201138|REF_RGD_ID:2317119 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:5082 liver cirrhosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:25987440|REF_RGD_ID:14696749 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:5409 lung small cell carcinoma severity ISO RGD:733483 D RGD:9068941 20200609 RGD protein:missense mutation:cds:p.A222V (human) PMID:17533396|REF_RGD_ID:4891158 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:5419 schizophrenia ISO RGD:733483 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Schizophrenia | ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:10677336|PMID:10679944|PMID:10923034|PMID:10958762|PMID:11395038|PMID:11590551|PMID:11742092|PMID:11752418|PMID:11938441|PMID:12560871|PMID:12673793|PMID:12733064|PMID:15048559|PMID:15103709|PMID:15543147|PMID:15951337|PMID:16199547|PMID:16244782|PMID:18523009|PMID:18583979|PMID:19810817|PMID:21778025|PMID:25079578|PMID:25227144|PMID:25736335|PMID:25741868|PMID:26025547|PMID:26872964|PMID:27743313|PMID:28492532|PMID:28514598|PMID:29246599|PMID:33089527|PMID:34214447|PMID:35322348|PMID:35499206|PMID:7726158|PMID:7920641|PMID:9545395 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:5419 schizophrenia susceptibility ISO RGD:733483 D RGD:7240710 20241218 OMIM 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:557 kidney disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18551038 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:5614 eye disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:SNP:cds:677C>T(human) PMID:16299146|REF_RGD_ID:7387241 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:5679 retinal disease ISO RGD:1551392 D RGD:9068941 20200609 RGD PMID:20532821|REF_RGD_ID:7387239 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:5844 myocardial infarction ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:10090925|REF_RGD_ID:10449412 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:5844 myocardial infarction susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; DNA:transition:cds:g.677C>T rs1801133 (human) PMID:19272686|REF_RGD_ID:6893548 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:61 mitral valve disease susceptibility ISO RGD:733483 D RGD:9068941 20210305 RGD associated with rheumatic heart disease;DNA:SNP:cds:677C>T (human) PMID:26813460|REF_RGD_ID:11537145 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:615 leukopenia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:630 genetic disease ISO RGD:733483 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25736335|PMID:25741868|PMID:28492532 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:6364 migraine susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:21635773|REF_RGD_ID:7387244 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:6419 tetralogy of Fallot susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: : rs1801133(human) PMID:22868813|REF_RGD_ID:11565105 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:23996892|REF_RGD_ID:14696704 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma onset ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C(human) PMID:19035314|REF_RGD_ID:14696707 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :677C>T, 1298A>C(human) PMID:17503006|REF_RGD_ID:14696703 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:17659576|REF_RGD_ID:14696708 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:733483 D RGD:9068941 20210305 RGD DNA:SNP:cds:677C>T (human) PMID:25060515|REF_RGD_ID:42722610 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:7148 rheumatoid arthritis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22104130 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:7148 rheumatoid arthritis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:23685257|REF_RGD_ID:7387222 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:74 hematopoietic system disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:7693 abdominal aortic aneurysm ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:17398378|REF_RGD_ID:6893584 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:77 gastrointestinal system disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:733483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:25664255|REF_RGD_ID:14696732 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19520069|REF_RGD_ID:6893523 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease severity ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) PMID:14737040|REF_RGD_ID:6893524 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:19520684|REF_RGD_ID:6893522 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transitions, transversion, haplotype:cds:g.677C>T, g.1298A>C, g.1793G>A (human) PMID:17899317|REF_RGD_ID:6893579 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:784 chronic kidney disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:g.677C>T (human) PMID:23595572|REF_RGD_ID:7244284 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:7997 thyrotoxicosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18941937 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:7998 hyperthyroidism ISO RGD:1309952 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:7990714|REF_RGD_ID:6893690 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:8029 sporadic breast cancer no_association ISO RGD:733483 D RGD:9068941 20200814 RGD DNA:missense mutations:cds:g.677C>T, g.1298A>T (human) PMID:28330681|REF_RGD_ID:38501055 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:83 cataract susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: : 677C>T, 1298A>C (human) PMID:16310481|REF_RGD_ID:7387253 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:8552 chronic myeloid leukemia ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:17156840|REF_RGD_ID:10449408 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:863 nervous system disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:8725 vascular dementia ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:8736 smallpox treatment ISO RGD:733483 D RGD:9068941 20210305 RGD DNA:SNP:exon:rs1801133(human) PMID:18454680|REF_RGD_ID:42722608 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:8778 Crohn's disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28002332 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) PMID:9040583|REF_RGD_ID:6893525 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:733483 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:17303386 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9000027 Microsatellite Instability ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17350979 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9000217 Stomach Neoplasms ISO RGD:733483 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Stomach Neoplasms PMID:10196703|PMID:10323741|PMID:10440833|PMID:10732818|PMID:10869114|PMID:10930360|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11710708|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:16172608|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9000326 Thrombotic Microangiopathies susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19448163|REF_RGD_ID:6893633 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9000528 Coronary Disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16792904 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9000965 Neoplasm Metastasis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704422 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9001234 Prenatal Exposure Delayed Effects sexual_dimorphism ISO RGD:1309952 D RGD:9068941 20240210 RGD mRNA:altered expression:hippocampus|hypothalamus (rat) PMID:26180184|REF_RGD_ID:11074449 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9001542 Albuminuria susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:22554825|REF_RGD_ID:6893631 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency ISO RGD:733483 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency PMID:10196703|PMID:10323741|PMID:10440833|PMID:10551815|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10767000|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12840091|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17576681|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22887477|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24033266|PMID:24241962|PMID:24797679|PMID:24908438|PMID:24997712|PMID:25007187|PMID:25079578|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27768236|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:31870219|PMID:32230794|PMID:32451826|PMID:32612964|PMID:32695297|PMID:33089527|PMID:3347350|PMID:34015165|PMID:3580562|PMID:6381059|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8940272|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9781030|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency ISO RGD:733483 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency PMID:10196703|PMID:10323741|PMID:10440833|PMID:10551815|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10767000|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11395038|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11916316|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12840091|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17409006|PMID:17436239|PMID:17457696|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17576681|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18854913|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20236116|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21131308|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22887477|PMID:22947400|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23526309|PMID:23648444|PMID:24033266|PMID:24241962|PMID:24726568|PMID:24797679|PMID:24997712|PMID:25007187|PMID:25024447|PMID:25079578|PMID:25110820|PMID:25162892|PMID:25177243|PMID:25227144|PMID:25736335|PMID:25741868|PMID:25758715|PMID:25778468|PMID:25856670|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27527345|PMID:27743313|PMID:27768236|PMID:27781293|PMID:27992285|PMID:28241805|PMID:28468868|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29284203|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:31069529|PMID:31462756|PMID:31589614|PMID:32161077|PMID:32230794|PMID:32451826|PMID:32612964|PMID:32695297|PMID:32939339|PMID:33089527|PMID:33125268|PMID:3347350|PMID:34015165|PMID:34214447|PMID:34347262|PMID:34845156|PMID:35008593|PMID:35322348|PMID:35499206|PMID:35578252|PMID:3580562|PMID:36901693|PMID:37239340|PMID:6381059|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8940272|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9781030|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency susceptibility ISO RGD:733483 D RGD:7240710 20241218 OMIM 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:733483 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:10196703|PMID:10323741|PMID:10440833|PMID:10551815|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10767000|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11395038|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11916316|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17576681|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18854913|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20236116|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21131308|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22887477|PMID:22947400|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23526309|PMID:23648444|PMID:24241962|PMID:24797679|PMID:24997712|PMID:25007187|PMID:25024447|PMID:25079578|PMID:25110820|PMID:25162892|PMID:25177243|PMID:25227144|PMID:25736335|PMID:25741868|PMID:25778468|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27992285|PMID:28241805|PMID:28468868|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29284203|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:31069529|PMID:32161077|PMID:32451826|PMID:32612964|PMID:32695297|PMID:32939339|PMID:33089527|PMID:33125268|PMID:3347350|PMID:34015165|PMID:34214447|PMID:34347262|PMID:34845156|PMID:35008593|PMID:35322348|PMID:35499206|PMID:35578252|PMID:36901693|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8940272|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9781030|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects susceptibility ISO RGD:733483 D RGD:7240710 20241218 OMIM 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) PMID:18280442|REF_RGD_ID:6893576 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) PMID:14737040|REF_RGD_ID:6893524 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16706930 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9002269 Mthfr Deficiency, Thermolabile Type ISO RGD:733483 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: MTHFR deficiency, thermolabile type PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11395038|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9002304 Prostatic Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17967524 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9002557 Inherited Blood Coagulation Disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17493413 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9002704 Leukoencephalopathies ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9002775 Cognitive Dysfunction ISO RGD:733483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mental deterioration PMID:25741868 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9002928 Colonic Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284371 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303386 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003505 Venous Thromboembolism ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:25207100|REF_RGD_ID:10449399 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003505 Venous Thromboembolism no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T, 1298A>C (human) PMID:25207100|REF_RGD_ID:10449399 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003758 Banti's Syndrome susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:18685811|REF_RGD_ID:10755472 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16275406 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:20798492|REF_RGD_ID:7387236 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:16572609|REF_RGD_ID:7387240 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs:cds:677C>T,1298A>C(human) PMID:15775757|REF_RGD_ID:7387243 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19123085 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:10929044|REF_RGD_ID:1580590 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition: :677C>T (human) PMID:12442281|REF_RGD_ID:10449394 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:10792297|REF_RGD_ID:6893655 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; DNA:transition, transversion:cds:g.677C>T rs1801133, g.1298A>C rs1801131 (human) PMID:22707612|REF_RGD_ID:6893602 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9004538 Hearing Loss susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:21385350|REF_RGD_ID:7387225 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9004563 Maxillofacial Abnormalities ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16832597 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:25664255|REF_RGD_ID:14696732 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9005172 Lung Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17389614 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9005236 Drug Eruptions ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14723717 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309952 D RGD:9068941 20200609 RGD protein:decreased activity:kidney (rat) PMID:9836532|REF_RGD_ID:6893689 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9005695 Malnutrition ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16709328 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9005749 Necrosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14723717 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9006262 Cytomegalovirus Infections ISO RGD:733483 D RGD:9068941 20210305 RGD PMID:19609317|REF_RGD_ID:42722609 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9006262 Cytomegalovirus Infections ameliorates ISO RGD:1551392 D RGD:9068941 20210305 RGD PMID:19609317|REF_RGD_ID:42722609 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9006332 Vascular Calcification severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:21394321|REF_RGD_ID:6893475 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:10477457|REF_RGD_ID:10449401 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9006532 Hematologic Neoplasms no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:21984221|REF_RGD_ID:10449413 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9006532 Hematologic Neoplasms treatment ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:21984221|REF_RGD_ID:10449413 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437|PMID:16166815|PMID:17387702|PMID:17502830|PMID:18551038|PMID:19159907|PMID:19391036|PMID:19821069|PMID:21064136|PMID:25007187|PMID:26077125 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007096 Stroke ISO RGD:733483 D RGD:9068941 20240815 CTD CTD Direct Evidence: marker/mechanism PMID:15534175|PMID:16681562|PMID:19646848 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007096 Stroke ISO RGD:733483 D RGD:9068941 20240815 RGD DNA:transition:cds:g.677C>T (human) PMID:15652605|REF_RGD_ID:6893467 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007096 Stroke no_association ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:missense mutation:cds:677C>T (human) PMID:9840906|REF_RGD_ID:10449417 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18551038|PMID:19648163 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:733483 D RGD:9068941 20200609 RGD associated with precursor lymphoblastic lymphoma/leukemia; DNA:SNP: :677C>T(human) PMID:30545275|REF_RGD_ID:14696733 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007456 Female Infertility ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16679164 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007479 Habitual Abortions ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C (human) PMID:22047507|PMID:22882325|REF_RGD_ID:10449404|REF_RGD_ID:10449415 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007479 Habitual Abortions no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:19906129|REF_RGD_ID:10449411 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007617 Conotruncal Cardiac Defects no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs:cds:c.677C>T,c.1298A>C (human) PMID:12705333|REF_RGD_ID:11565174 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007715 Endometrial Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17301261 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007908 Aortic Coarctation ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19764075|REF_RGD_ID:4891157 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9007964 Arsenic Poisoning ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24384392 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9008086 Developmental Disabilities ISO RGD:733483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:733483 D RGD:9068941 20200814 RGD associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human) PMID:20957490|PMID:23183616|REF_RGD_ID:38501056|REF_RGD_ID:38501057 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9008443 Colorectal Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15608557|PMID:16512993|PMID:16985020|PMID:17047490|PMID:17087956|PMID:17245555|PMID:17350979|PMID:18676755|PMID:26858257 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9008887 Microvascular Angina ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17491230 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9008887 Microvascular Angina ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:17491230|REF_RGD_ID:4891159 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9008939 Breast Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16777985|PMID:17595805|PMID:28114181 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9119 acute myeloid leukemia ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:17156840|REF_RGD_ID:10449408 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:916 liver benign neoplasm onset ISO RGD:1309952 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:22213190|REF_RGD_ID:6893663 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733483 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11395038|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25741868|PMID:25741905|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733483 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11395038|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9279 hyperhomocysteinemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10459572|PMID:15226090|PMID:16317120|PMID:16397167|PMID:16411416|PMID:16575899|PMID:17387702|PMID:18234410|PMID:18551038|PMID:19204075|PMID:19646848 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9279 hyperhomocysteinemia ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutations:CDS:multiple (human) PMID:10679944|REF_RGD_ID:1601421 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human) PMID:12471611|REF_RGD_ID:10449400 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9296 cleft lip ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470725 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9296 cleft lip susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.677C>T(human) PMID:27387868|REF_RGD_ID:11565179 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9351 diabetes mellitus no_association ISO RGD:733483 D RGD:9068941 20200813 RGD DNA:transition:cds:g.677C>T (human) PMID:9607212|REF_RGD_ID:38501049 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19996639|REF_RGD_ID:6893653 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:16828193|REF_RGD_ID:6893657 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:21186995|REF_RGD_ID:6893476 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9406 hypopituitarism ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:21107737|REF_RGD_ID:10449406 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9452 steatotic liver disease ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; DNA:transition:cds:g.677C>T (human) PMID:15834927|REF_RGD_ID:1580580 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9477 pulmonary embolism ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19123085 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9538 multiple myeloma ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:677C>T, 1298A>C (human) PMID:24839819|REF_RGD_ID:10449397 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9663 aphthous stomatitis severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (rs1801133) (human) PMID:23665953|REF_RGD_ID:10449402 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9744 type 1 diabetes mellitus severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transversion:cds:g.1298A>C (human) PMID:18774994|REF_RGD_ID:6893652 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9849 Meniere's disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T(rs1801133),1298A>C(1801131)(human) PMID:23484733|REF_RGD_ID:7387223 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:987 alopecia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381794 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16706930 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human) PMID:19923983|REF_RGD_ID:10449398 11673863 MTHFR methylenetetrahydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (human) PMID:21644011|REF_RGD_ID:10449407 11673891 ZG16 zymogen granule protein 16 gene DOID:0060041 autism spectrum disorder ISO RGD:732666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 11673891 ZG16 zymogen granule protein 16 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:732666 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 11673891 ZG16 zymogen granule protein 16 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:732666 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 11673891 ZG16 zymogen granule protein 16 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:732666 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 11673891 ZG16 zymogen granule protein 16 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:732666 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 11673891 ZG16 zymogen granule protein 16 gene DOID:12849 autistic disorder ISO RGD:732666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11673891 ZG16 zymogen granule protein 16 gene DOID:12930 dilated cardiomyopathy ISO RGD:732666 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:28492532 11673891 ZG16 zymogen granule protein 16 gene DOID:5419 schizophrenia ISO RGD:732666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11673891 ZG16 zymogen granule protein 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11673904 ARMT1 acidic residue methyltransferase 1 gene DOID:0060424 chromosome 6q24-q25 deletion syndrome ISO RGD:1313144 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome PMID:25741868|PMID:38177409 11673916 MVB12A multivesicular body subunit 12A gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1604253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS 11673929 FAM83C family with sequence similarity 83 member C gene DOID:0080699 glutathione synthetase deficiency ISO RGD:1344185 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA PMID:12638941|PMID:15717202|PMID:28492532 11673929 FAM83C family with sequence similarity 83 member C gene DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria ISO RGD:1344185 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY PMID:12638941|PMID:15717202|PMID:28492532 11673929 FAM83C family with sequence similarity 83 member C gene DOID:10283 prostate cancer ISO RGD:1344185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11673939 E2F1 E2F transcription factor 1 gene DOID:0080600 COVID-19 ISO RGD:730923 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11673939 E2F1 E2F transcription factor 1 gene DOID:0080699 glutathione synthetase deficiency ISO RGD:730923 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA PMID:12638941|PMID:15717202|PMID:28492532 11673939 E2F1 E2F transcription factor 1 gene DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria ISO RGD:730923 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY PMID:12638941|PMID:15717202|PMID:28492532 11673939 E2F1 E2F transcription factor 1 gene DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ISO RGD:730923 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase PMID:15024124|PMID:20852937|PMID:28492532 11673939 E2F1 E2F transcription factor 1 gene DOID:10283 prostate cancer ISO RGD:730923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 11673939 E2F1 E2F transcription factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:730923 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex,cytoplasm: PMID:11939591|REF_RGD_ID:10401093 11673939 E2F1 E2F transcription factor 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:730923 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder PMID:20421545|REF_RGD_ID:13602004 11673939 E2F1 E2F transcription factor 1 gene DOID:12858 Huntington's disease ISO RGD:728892 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18768156|REF_RGD_ID:2316262 11673939 E2F1 E2F transcription factor 1 gene DOID:12858 Huntington's disease ISO RGD:730923 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18768156|REF_RGD_ID:2316262 11673939 E2F1 E2F transcription factor 1 gene DOID:12894 Sjogren's syndrome ISO RGD:730924 D RGD:9068941 20220825 MouseDO OMIM:270150 11673939 E2F1 E2F transcription factor 1 gene DOID:1307 dementia ISO RGD:730923 D RGD:9068941 20200609 RGD associated with Down Syndrome;protein:increased expression:frontal cortex; PMID:11423103|REF_RGD_ID:10401091 11673939 E2F1 E2F transcription factor 1 gene DOID:14566 disease of cellular proliferation ISO RGD:730923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464002 11673939 E2F1 E2F transcription factor 1 gene DOID:1793 pancreatic cancer treatment ISO RGD:728892 D RGD:9068941 20200609 RGD PMID:28344092|REF_RGD_ID:13838737 11673939 E2F1 E2F transcription factor 1 gene DOID:1909 melanoma ISO RGD:730923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15574415|PMID:16827129 11673939 E2F1 E2F transcription factor 1 gene DOID:2843 long QT syndrome ISO RGD:730923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11673939 E2F1 E2F transcription factor 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:16264179|REF_RGD_ID:13702471 11673939 E2F1 E2F transcription factor 1 gene DOID:3070 high grade glioma severity ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:28042322|REF_RGD_ID:13702468 11673939 E2F1 E2F transcription factor 1 gene DOID:3347 osteosarcoma ISO RGD:730923 D RGD:9068941 20220128 RGD human cells in mouse model PMID:29039472|REF_RGD_ID:151347601 11673939 E2F1 E2F transcription factor 1 gene DOID:3347 osteosarcoma severity ISO RGD:730923 D RGD:9068941 20220128 RGD protein:increased expression:bone (human) PMID:29039472|REF_RGD_ID:151347601 11673939 E2F1 E2F transcription factor 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:730923 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic ductal cell, nucleus (human) PMID:27573434|REF_RGD_ID:13838738 11673939 E2F1 E2F transcription factor 1 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:730923 D RGD:9068941 20200609 RGD DNA:amplification: : (human) PMID:17233815|REF_RGD_ID:13838739 11673939 E2F1 E2F transcription factor 1 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:730923 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic ductal cell, nucleus (human) PMID:12650514|REF_RGD_ID:13838735 11673939 E2F1 E2F transcription factor 1 gene DOID:3907 lung squamous cell carcinoma treatment ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:28927142|REF_RGD_ID:13464332 11673939 E2F1 E2F transcription factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 11673939 E2F1 E2F transcription factor 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:12237873|REF_RGD_ID:13464342 11673939 E2F1 E2F transcription factor 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:23543735|REF_RGD_ID:9590260 11673939 E2F1 E2F transcription factor 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:12358350|PMID:28498400|REF_RGD_ID:13464333|REF_RGD_ID:13464343 11673939 E2F1 E2F transcription factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:730923 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:26695082|REF_RGD_ID:13464334 11673939 E2F1 E2F transcription factor 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:730923 D RGD:9068941 20200609 RGD Human cells in a mouse model PMID:28797284|REF_RGD_ID:13838736 11673939 E2F1 E2F transcription factor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:730923 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11313916|REF_RGD_ID:13464344 11673939 E2F1 E2F transcription factor 1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:24755270|REF_RGD_ID:13464335 11673939 E2F1 E2F transcription factor 1 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:23792570|REF_RGD_ID:13464337 11673939 E2F1 E2F transcription factor 1 gene DOID:630 genetic disease ISO RGD:730923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11673939 E2F1 E2F transcription factor 1 gene DOID:646 viral encephalitis ISO RGD:730923 D RGD:9068941 20200609 RGD associated with HIV Infections; protein:increased expression:brain, neuron, cytoplasm: PMID:11896158|REF_RGD_ID:10401094 11673939 E2F1 E2F transcription factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12029619|PMID:15565109|PMID:28284560 11673939 E2F1 E2F transcription factor 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:730923 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:26460262|REF_RGD_ID:13674165 11673939 E2F1 E2F transcription factor 1 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:730923 D RGD:9068941 20220128 RGD protein:increased expression:bone (human) PMID:29039472|REF_RGD_ID:151347601 11673939 E2F1 E2F transcription factor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30515189 11673939 E2F1 E2F transcription factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14672398 11673939 E2F1 E2F transcription factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730924 D RGD:9068941 20200609 RGD E2f1/E2f2 double knockout PMID:15146237|REF_RGD_ID:1300306 11673939 E2F1 E2F transcription factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730924 D RGD:9068941 20220825 MouseDO OMIM:222100 11673988 FAM9C family with sequence similarity 9 member C gene DOID:0110980 Joubert syndrome 1 ISO RGD:1345371 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 11673988 FAM9C family with sequence similarity 9 member C gene DOID:12849 autistic disorder ISO RGD:1345371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11673988 FAM9C family with sequence similarity 9 member C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674006 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:1909 melanoma ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 11674006 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:6039 uveal melanoma ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 11674006 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:8923 skin melanoma ISO RGD:1313400 D RGD:9068941 20241226 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 11674006 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 11674006 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 11674006 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9003566 Mesothelioma ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 11674006 JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9008939 Breast Neoplasms ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 11674022 SPIB Spi-B transcription factor gene DOID:12236 primary biliary cholangitis ISO RGD:1347644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20639880 11674022 SPIB Spi-B transcription factor gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1347644 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 11674050 TBK1 TANK binding kinase 1 gene DOID:0081013 severe COVID-19 ISO RGD:1313752 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:25741868|PMID:28492532 11674050 TBK1 TANK binding kinase 1 gene DOID:0081390 progressive non-fluent aphasia ISO RGD:1313752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary progressive non fluent aphasia 11674050 TBK1 TANK binding kinase 1 gene DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ISO RGD:1313752 D RGD:7240710 20250101 OMIM 11674050 TBK1 TANK binding kinase 1 gene DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ISO RGD:1313752 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: FTDALS4 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 PMID:16199547|PMID:17576681|PMID:21447600|PMID:22851595|PMID:23453972|PMID:24033266|PMID:25700176|PMID:25741868|PMID:25803835|PMID:25943890|PMID:26476236|PMID:26581300|PMID:26804609|PMID:27156075|PMID:27892983|PMID:28008748|PMID:28089114|PMID:28365590|PMID:28492532|PMID:28822984|PMID:29146049|PMID:29398122|PMID:30033073|PMID:30739198|PMID:31000212|PMID:31244341|PMID:31475037|PMID:31498468|PMID:31748271|PMID:31914217|PMID:31996268|PMID:32317127|PMID:32409511|PMID:32447396|PMID:32579787|PMID:32638105|PMID:32772249|PMID:32980182|PMID:33208543|PMID:33245169|PMID:33618928|PMID:34099552|PMID:34363755|PMID:35260199|PMID:37223130|PMID:38517332|PMID:9536098 11674050 TBK1 TANK binding kinase 1 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1313752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868 11674050 TBK1 TANK binding kinase 1 gene DOID:0111402 mucopolysaccharidosis type IIID ISO RGD:1313752 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D PMID:20232353|PMID:28492532 11674050 TBK1 TANK binding kinase 1 gene DOID:1070 primary open angle glaucoma ISO RGD:1313752 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532 11674050 TBK1 TANK binding kinase 1 gene DOID:231 motor neuron disease ISO RGD:1313752 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:21447600|PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:26804609|PMID:28089114|PMID:28492532|PMID:31748271|PMID:31996268|PMID:32317127 11674050 TBK1 TANK binding kinase 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1313752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 11674050 TBK1 TANK binding kinase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1313752 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:16199547|PMID:25741868|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|PMID:30033073|PMID:31244341|PMID:33245169 11674050 TBK1 TANK binding kinase 1 gene DOID:630 genetic disease ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11674050 TBK1 TANK binding kinase 1 gene DOID:9000417 Glaucoma 1, Open Angle, P ISO RGD:1313752 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, P PMID:24033266|PMID:25741868|PMID:28492532 11674050 TBK1 TANK binding kinase 1 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1313752 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1 PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532 11674050 TBK1 TANK binding kinase 1 gene DOID:9009137 AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS ISO RGD:1313752 D RGD:7240710 20250101 OMIM 11674050 TBK1 TANK binding kinase 1 gene DOID:9009137 AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS ISO RGD:1313752 D RGD:8554872 20240917 ClinVar ClinVar Annotator: match by term: Autoinflammation with arthritis and vasculitis PMID:25803835|PMID:26476236|PMID:32447396|PMID:34363755 11674050 TBK1 TANK binding kinase 1 gene DOID:9009143 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8 ISO RGD:1313752 D RGD:7240710 20250101 OMIM 11674050 TBK1 TANK binding kinase 1 gene DOID:9009143 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8 ISO RGD:1313752 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | ClinVar Annotator: match by term: HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 6 PMID:22851595|PMID:25700176|PMID:25741868|PMID:25803835|PMID:26476236|PMID:26513235|PMID:26581300|PMID:27156075|PMID:28008748|PMID:28492532|PMID:30033073|PMID:31244341|PMID:31996268 11674080 RPL30 ribosomal protein L30 gene DOID:8566 herpes simplex ISO RGD:731558 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:ribosome PMID:7588575|REF_RGD_ID:11039399 11674088 LHFPL4 LHFPL tetraspan subfamily member 4 gene DOID:2843 long QT syndrome ISO RGD:1604456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 11674088 LHFPL4 LHFPL tetraspan subfamily member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674088 LHFPL4 LHFPL tetraspan subfamily member 4 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1604456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 11674095 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:0060790 hypomyelinating leukodystrophy 3 ISO RGD:1344147 D RGD:7240710 20180130 OMIM 11674095 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:0060790 hypomyelinating leukodystrophy 3 ISO RGD:1344147 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: AIMP1-related condition | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3 PMID:21092922|PMID:23806086|PMID:24088041|PMID:24958424|PMID:25741868|PMID:26173967|PMID:26257172|PMID:28492532|PMID:30486714|PMID:30828585|PMID:30924036|PMID:31618474|PMID:32531460 11674095 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:1289 neurodegenerative disease ISO RGD:620466 D RGD:9068941 20200609 RGD PMID:12429238|REF_RGD_ID:724676 11674095 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:5844 myocardial infarction ISO RGD:620466 D RGD:9068941 20200609 RGD PMID:14732363|REF_RGD_ID:1580021 11674095 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:630 genetic disease ISO RGD:1344147 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11674095 AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1344147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868 11674117 SLC16A13 solute carrier family 16 member 13 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1354212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 11674117 SLC16A13 solute carrier family 16 member 13 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1354212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 11674117 SLC16A13 solute carrier family 16 member 13 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1354212 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 11674117 SLC16A13 solute carrier family 16 member 13 gene DOID:12177 common variable immunodeficiency ISO RGD:1354212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 11674117 SLC16A13 solute carrier family 16 member 13 gene DOID:2729 dyskeratosis congenita ISO RGD:1354212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1349923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1349923 D RGD:7240710 20180130 OMIM 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1349923 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:12872255|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22304930|PMID:22492991|PMID:22742743|PMID:22786653|PMID:23249953|PMID:23430862|PMID:23591138|PMID:23806237|PMID:24033266|PMID:24759841|PMID:25326635|PMID:25500013|PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:28662078|PMID:28712839|PMID:30117111|PMID:30388443|PMID:31127727|PMID:31153949|PMID:31589614|PMID:33743358|PMID:9536098 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0080690 RASopathy ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1349923 D RGD:7240710 20180130 OMIM 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1349923 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 PMID:12872255|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22742743|PMID:22786653|PMID:23249953|PMID:23430862|PMID:23591138|PMID:23806237|PMID:24033266|PMID:24759841|PMID:25500013|PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:28662078|PMID:28712839|PMID:30117111|PMID:30388443|PMID:31127727|PMID:31153949|PMID:31589614|PMID:33743358|PMID:9536098 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:3133 acute porphyria ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute Porphyria PMID:18414213|PMID:25741868|PMID:28492532 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1349923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:3890 acute intermittent porphyria ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type PMID:18414213|PMID:25741868|PMID:28492532 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:12872255|PMID:18414213|PMID:22304930|PMID:22742743|PMID:23806237|PMID:25741868|PMID:28492532|PMID:30117111|PMID:31589614|PMID:33743358 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:5419 schizophrenia ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:630 genetic disease ISO RGD:1349923 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22742743|PMID:23806237|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30117111|PMID:31589614|PMID:33743358|PMID:9536098 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1349923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9000918 Disease Progression ISO RGD:1349923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9002092 Tubular Aggregate Myopathies ISO RGD:1349923 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Myopathy with tubular aggregates PMID:25741868|PMID:38124360 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9004100 Familial Atrial Fibrillation 14 ISO RGD:1349923 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 PMID:28492532 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9007661 Dwarfism ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11674138 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 11674157 SMIM9 small integral membrane protein 9 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:5481439 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11674157 SMIM9 small integral membrane protein 9 gene DOID:0050476 Barth syndrome ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11674157 SMIM9 small integral membrane protein 9 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11674157 SMIM9 small integral membrane protein 9 gene DOID:0111823 autosomal hemophilia A ISO RGD:5481439 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:2105106|PMID:31690835 11674157 SMIM9 small integral membrane protein 9 gene DOID:0112003 immunodeficiency 33 ISO RGD:5481439 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 11674157 SMIM9 small integral membrane protein 9 gene DOID:10588 adrenoleukodystrophy ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11674157 SMIM9 small integral membrane protein 9 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11674157 SMIM9 small integral membrane protein 9 gene DOID:12134 factor VIII deficiency ISO RGD:5481439 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:2105106|PMID:31690835 11674157 SMIM9 small integral membrane protein 9 gene DOID:12849 autistic disorder ISO RGD:5481439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11674157 SMIM9 small integral membrane protein 9 gene DOID:13628 favism ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 11674157 SMIM9 small integral membrane protein 9 gene DOID:2729 dyskeratosis congenita ISO RGD:5481439 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 11674157 SMIM9 small integral membrane protein 9 gene DOID:607 paraplegia ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 11674157 SMIM9 small integral membrane protein 9 gene DOID:9002720 Splenomegaly ISO RGD:5481439 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 11674175 ARMCX6 armadillo repeat containing X-linked 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11674175 ARMCX6 armadillo repeat containing X-linked 6 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1352776 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 11674175 ARMCX6 armadillo repeat containing X-linked 6 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1352776 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 11674175 ARMCX6 armadillo repeat containing X-linked 6 gene DOID:0111823 autosomal hemophilia A ISO RGD:1352776 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 11674175 ARMCX6 armadillo repeat containing X-linked 6 gene DOID:12134 factor VIII deficiency ISO RGD:1352776 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 11674175 ARMCX6 armadillo repeat containing X-linked 6 gene DOID:12849 autistic disorder ISO RGD:1352776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11674196 ZNF771 zinc finger protein 771 gene DOID:12930 dilated cardiomyopathy ISO RGD:1605390 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:28492532 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0060017 CD3epsilon deficiency ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:2293598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0080690 RASopathy ISO RGD:2293598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0081330 glycogen storage disease Ib ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0110651 long QT syndrome 10 ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0111971 immunodeficiency 18 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0111972 immunodeficiency 19 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:0111973 immunodeficiency 17 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:684 hepatocellular carcinoma ISO RGD:2293598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2293598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:9004100 Familial Atrial Fibrillation 14 ISO RGD:2293598 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 PMID:28492532 11674204 TTC36 tetratricopeptide repeat domain 36 gene DOID:9007661 Dwarfism ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11674251 STC1 stanniocalcin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:621776 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:15485913|REF_RGD_ID:2324700 11674259 UBE2W ubiquitin conjugating enzyme E2 W gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1605362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106 11674286 PRR14 proline rich 14 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1604599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 11674286 PRR14 proline rich 14 gene DOID:12930 dilated cardiomyopathy ISO RGD:1604599 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:28492532 11674305 EXOC4 exocyst complex component 4 gene DOID:0050778 Meckel syndrome ISO RGD:1353036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25558065 11674305 EXOC4 exocyst complex component 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11674327 SRL sarcalumenin gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1315254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 11674327 SRL sarcalumenin gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1315254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 11674327 SRL sarcalumenin gene DOID:1059 intellectual disability ISO RGD:1315254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11674327 SRL sarcalumenin gene DOID:1826 epilepsy ISO RGD:1315254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 11674327 SRL sarcalumenin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1315254 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11674327 SRL sarcalumenin gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1315254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 11674359 YBX3 Y-box binding protein 3 gene DOID:9008091 Optic Nerve Injuries ISO RGD:621056 D RGD:9068941 20200609 RGD mRNA:increased expression:retinal ganglion cell PMID:11750989|REF_RGD_ID:2311250 11674373 QTRT1 queuine tRNA-ribosyltransferase catalytic subunit 1 gene DOID:0111989 immunodeficiency 35 ISO RGD:732681 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Immunodeficiency 35 PMID:28492532 11674373 QTRT1 queuine tRNA-ribosyltransferase catalytic subunit 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:732681 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:20809525|PMID:21382890|PMID:28492532|PMID:28645073 11674393 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1604818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11674393 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:0080600 COVID-19 ISO RGD:1604818 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11674393 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1604818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11674393 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:684 hepatocellular carcinoma ISO RGD:1604818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11674393 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1604818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 11674393 DTL denticleless E3 ubiquitin protein ligase homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11674412 NUDT1 nudix hydrolase 1 gene DOID:10652 Alzheimer's disease ISO RGD:731881 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:21538080|REF_RGD_ID:10449033 11674412 NUDT1 nudix hydrolase 1 gene DOID:10763 hypertension ISO RGD:621080 D RGD:9068941 20200609 RGD PMID:17280880|REF_RGD_ID:10449166 11674412 NUDT1 nudix hydrolase 1 gene DOID:9001191 Cadmium Poisoning ISO RGD:621080 D RGD:9068941 20200609 RGD PMID:11817101|REF_RGD_ID:633232 11674412 NUDT1 nudix hydrolase 1 gene DOID:9002644 Premature Aging ISO RGD:731882 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hippocampus PMID:21538080|REF_RGD_ID:10449033 11674412 NUDT1 nudix hydrolase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621080 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:12036445|REF_RGD_ID:724605 11674412 NUDT1 nudix hydrolase 1 gene DOID:9008691 Liver Injury ISO RGD:621080 D RGD:9068941 20200609 RGD PMID:9547863|REF_RGD_ID:10449034 11674421 PDCD6IP programmed cell death 6 interacting protein gene DOID:8398 osteoarthritis ISO RGD:68505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 11674421 PDCD6IP programmed cell death 6 interacting protein gene DOID:9003562 Primary Autosomal Recessive Microcephaly 29 ISO RGD:68505 D RGD:7240710 20221012 OMIM 11674448 RUFY4 RUN and FYVE domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:0060254 Robinow syndrome ISO RGD:1318833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:1318833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 PMID:23806086|PMID:24088041|PMID:25741868|PMID:26924530|PMID:29276006 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:1318833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:23806086|PMID:24088041|PMID:25741868|PMID:26924530 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:0060767 autosomal dominant Robinow syndrome 3 ISO RGD:1318833 D RGD:7240710 20190315 OMIM 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:0060767 autosomal dominant Robinow syndrome 3 ISO RGD:1318833 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 | ClinVar Annotator: match by term: DVL3-related condition PMID:17576681|PMID:23806086|PMID:24088041|PMID:25741868|PMID:26924530|PMID:28492532|PMID:9536098 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1318833 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:0080579 3-methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1318833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:0111546 Currarino syndrome ISO RGD:1318833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:1324 lung cancer ISO RGD:1318833 D RGD:9068941 20220721 RGD DNA:SNP:intron:rs1969253 (human) PMID:29193083|REF_RGD_ID:153297750 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:630 genetic disease ISO RGD:1318833 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11674465 DVL3 dishevelled segment polarity protein 3 gene DOID:9007661 Dwarfism ISO RGD:1318833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:0080685 aortic dissection ISO RGD:1603357 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Acute aortic dissection PMID:12417550|PMID:26838787|PMID:27432961|PMID:28492532|PMID:29961567|PMID:30675029|PMID:31211696|PMID:31459939 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1603357 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12417550|PMID:20929399|PMID:21612403|PMID:22722997|PMID:22911823|PMID:22948781|PMID:23758270|PMID:24033266|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939|PMID:34281165|PMID:8100215 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1603357 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12417550|PMID:20929399|PMID:21612403|PMID:22722997|PMID:22911823|PMID:22948781|PMID:23758270|PMID:24033266|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:29961567|PMID:30675029|PMID:31211696|PMID:31459939|PMID:34281165|PMID:8100215 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:3144 cutis laxa ISO RGD:1603357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:25741868 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:630 genetic disease ISO RGD:1603357 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:65 connective tissue disease ISO RGD:1603357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:9000442 Familial Thoracic Aortic Aneurysm 10 ISO RGD:1603357 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-related disorder PMID:12417550|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25017124|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:29086201|PMID:29961567|PMID:30675029|PMID:31211624|PMID:31211696|PMID:31459939|PMID:31506931|PMID:32860008|PMID:33648514|PMID:34281165|PMID:9536098 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:9002884 Emphysema ISO RGD:1603357 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Emphysema PMID:25741868|PMID:28492532 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:9005883 Pleural Effusion ISO RGD:1603357 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pleural effusion PMID:25741868|PMID:28492532 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1603357 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:12417550|PMID:26838787|PMID:27432961|PMID:28492532|PMID:29961567|PMID:30675029|PMID:31211696|PMID:31459939 11674489 SRFBP1 serum response factor binding protein 1 gene DOID:9675 pulmonary emphysema ISO RGD:1603357 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary emphysema PMID:25741868|PMID:28492532 11674501 ATRIP ATR interacting protein gene DOID:0050569 Seckel syndrome ISO RGD:1625848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:25741868 11674501 ATRIP ATR interacting protein gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1625848 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:20392289|PMID:20799324|PMID:21270825|PMID:21937424|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24088041|PMID:24183309|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:26633545|PMID:26938784|PMID:27391121|PMID:27943079|PMID:28089741|PMID:28492532|PMID:28750028|PMID:28919362|PMID:29159939|PMID:29239743|PMID:29387804|PMID:29453417|PMID:29859840|PMID:30219631|PMID:31130681|PMID:31585108|PMID:31980526|PMID:32483926|PMID:32860008|PMID:33504652|PMID:33528079|PMID:34426522|PMID:35307828|PMID:35456422|PMID:35532072|PMID:36586737 11674501 ATRIP ATR interacting protein gene DOID:0060386 Chilblain lupus ISO RGD:1625848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus PMID:16960810|PMID:17357087|PMID:17440703|PMID:18805785|PMID:20799324|PMID:20871604|PMID:21808053|PMID:22829693|PMID:23989343|PMID:25848017|PMID:28492532 11674501 ATRIP ATR interacting protein gene DOID:0111567 retinal vasculopathy with cerebral leukodystrophy ISO RGD:1625848 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena | ClinVar Annotator: match by term: Vasculopathy, retinal, with cerebral leukodystrophy PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:1821204|PMID:18583934|PMID:18805785|PMID:20131292|PMID:20392289|PMID:20799324|PMID:21270825|PMID:21937424|PMID:22718116|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24088041|PMID:24183309|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:26633545|PMID:26938784|PMID:27391121|PMID:27604306|PMID:27943079|PMID:28089741|PMID:28492532|PMID:28750028|PMID:28919362|PMID:29159939|PMID:29239743|PMID:29387804|PMID:29453417|PMID:29720203|PMID:29859840|PMID:30219631|PMID:31130681|PMID:31585108|PMID:3174024|PMID:31980526|PMID:32483926|PMID:32860008|PMID:33504652|PMID:33516249|PMID:33528079|PMID:34426522|PMID:35307828|PMID:35456422|PMID:35532072|PMID:36586737|PMID:9371916 11674501 ATRIP ATR interacting protein gene DOID:13945 CADASIL ISO RGD:1625848 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: CASIL PMID:17660818|PMID:21270825|PMID:23881107|PMID:23979357|PMID:25741868|PMID:28492532|PMID:35307828|PMID:36586737 11674501 ATRIP ATR interacting protein gene DOID:630 genetic disease ISO RGD:1625848 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24183309|PMID:24224166|PMID:25138095|PMID:25500883|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:27391121|PMID:28089741|PMID:28492532|PMID:29239743|PMID:29387804|PMID:29859840|PMID:30219631|PMID:31130681|PMID:31980526|PMID:32483926|PMID:33504652|PMID:33606975|PMID:34426522|PMID:35456422|PMID:36586737 11674501 ATRIP ATR interacting protein gene DOID:8501 fundus dystrophy ISO RGD:1625848 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:33528079 11674501 ATRIP ATR interacting protein gene DOID:8725 vascular dementia ISO RGD:1625848 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:17660818|PMID:21270825|PMID:23881107|PMID:23979357|PMID:25741868|PMID:28492532|PMID:35307828|PMID:36586737 11674501 ATRIP ATR interacting protein gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1625848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:29941221 11674501 ATRIP ATR interacting protein gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1625848 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant PMID:16845398|PMID:16960810|PMID:17293595|PMID:17357087|PMID:17440703|PMID:17660818|PMID:17660820|PMID:17846997|PMID:1821204|PMID:18583934|PMID:18805785|PMID:19344873|PMID:19875384|PMID:20131292|PMID:20392289|PMID:20799324|PMID:20871604|PMID:21270825|PMID:21808053|PMID:21937424|PMID:22367235|PMID:22718116|PMID:22829693|PMID:23602593|PMID:23881107|PMID:23918923|PMID:23979357|PMID:23989343|PMID:24033266|PMID:24088041|PMID:24183309|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25500883|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25848017|PMID:25906927|PMID:26150267|PMID:26182405|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26691497|PMID:26938784|PMID:27391121|PMID:27604306|PMID:27943079|PMID:28089741|PMID:28492532|PMID:28750028|PMID:28919362|PMID:29159939|PMID:29239743|PMID:29387804|PMID:29453417|PMID:29453956|PMID:29859840|PMID:30219631|PMID:31056085|PMID:31130681|PMID:31585108|PMID:31589614|PMID:31719132|PMID:3174024|PMID:31980526|PMID:32483926|PMID:32860008|PMID:32877590|PMID:33042144|PMID:33476576|PMID:33504652|PMID:33528079|PMID:33606975|PMID:33892200|PMID:34426522|PMID:34440436|PMID:34490615|PMID:34490982|PMID:35307828|PMID:35456422|PMID:35532072|PMID:3580372|PMID:35803721|PMID:35879334|PMID:36586737|PMID:36964972|PMID:37171742|PMID:37865086 11674501 ATRIP ATR interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1625848 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674501 ATRIP ATR interacting protein gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1625848 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Chilblain lupus 1 PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:20392289|PMID:20799324|PMID:21270825|PMID:21937424|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24088041|PMID:24183309|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:26633545|PMID:26938784|PMID:27391121|PMID:27943079|PMID:28089741|PMID:28492532|PMID:28750028|PMID:28919362|PMID:29239743|PMID:29387804|PMID:29453417|PMID:29859840|PMID:30219631|PMID:31130681|PMID:31585108|PMID:31980526|PMID:32483926|PMID:32860008|PMID:33504652|PMID:33528079|PMID:34426522|PMID:35307828|PMID:35456422|PMID:36586737 11674501 ATRIP ATR interacting protein gene DOID:9074 systemic lupus erythematosus ISO RGD:1625848 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:24033266|PMID:24088041|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:26633545|PMID:27391121|PMID:28089741|PMID:28492532|PMID:28750028|PMID:28919362|PMID:29239743|PMID:29387804|PMID:29859840|PMID:30219631|PMID:31130681|PMID:31980526|PMID:32483926|PMID:32860008|PMID:33504652|PMID:33528079|PMID:34426522|PMID:35456422|PMID:36586737 11674527 LAT linker for activation of T cells gene DOID:0050692 Brody myopathy ISO RGD:1342944 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:10914677|PMID:23911890|PMID:28492532|PMID:32040565|PMID:8841193 11674527 LAT linker for activation of T cells gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1342944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 11674527 LAT linker for activation of T cells gene DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb ISO RGD:1342944 D RGD:8554872 20231226 ClinVar ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome 11674527 LAT linker for activation of T cells gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1342944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 11674527 LAT linker for activation of T cells gene DOID:0080356 IgG4-related disease ISO RGD:734455 D RGD:9068941 20220825 MouseDO 11674527 LAT linker for activation of T cells gene DOID:0111983 immunodeficiency 52 ISO RGD:1342944 D RGD:7240710 20190315 OMIM 11674527 LAT linker for activation of T cells gene DOID:0111983 immunodeficiency 52 ISO RGD:1342944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LAT-related condition | ClinVar Annotator: match by term: Severe combined immunodeficiency due to LAT deficiency PMID:25741868|PMID:27242165|PMID:27522155|PMID:28492532 11674527 LAT linker for activation of T cells gene DOID:12930 dilated cardiomyopathy ISO RGD:1342944 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:28492532 11674527 LAT linker for activation of T cells gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1342944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 11674527 LAT linker for activation of T cells gene DOID:3602 toxic encephalopathy ISO RGD:1342944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11674527 LAT linker for activation of T cells gene DOID:409 liver disease ISO RGD:1342944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 11674527 LAT linker for activation of T cells gene DOID:5419 schizophrenia ISO RGD:1342944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11674528 E2F2 E2F transcription factor 2 gene DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ISO RGD:1348982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 11674528 E2F2 E2F transcription factor 2 gene DOID:0080600 COVID-19 ISO RGD:1348982 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11674528 E2F2 E2F transcription factor 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1348982 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:19061985|PMID:19773262|PMID:22689679|PMID:28492532 11674528 E2F2 E2F transcription factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 11674528 E2F2 E2F transcription factor 2 gene DOID:9000918 Disease Progression ISO RGD:1348982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 11674528 E2F2 E2F transcription factor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1616520 D RGD:9068941 20200609 RGD E2f1/E2f2 double knockout PMID:15146237|REF_RGD_ID:1300306 11674543 GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type gene DOID:2717 Bloom syndrome ISO RGD:1344597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11674543 GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type gene DOID:9256 colorectal cancer ISO RGD:1344597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11674554 EXTL3 exostosin like glycosyltransferase 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11674554 EXTL3 exostosin like glycosyltransferase 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:735783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11674554 EXTL3 exostosin like glycosyltransferase 3 gene DOID:630 genetic disease ISO RGD:735783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11674554 EXTL3 exostosin like glycosyltransferase 3 gene DOID:9001094 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities ISO RGD:735783 D RGD:7240710 20190315 OMIM 11674554 EXTL3 exostosin like glycosyltransferase 3 gene DOID:9001094 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities ISO RGD:735783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EXTL3-related condition | ClinVar Annotator: match by term: Immunoskeletal dysplasia with neurodevelopmental abnormalities PMID:25741868|PMID:28132690|PMID:28148688|PMID:28492532 11674581 FZD3 frizzled class receptor 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:732935 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11674581 FZD3 frizzled class receptor 3 gene DOID:0070338 cerebellar hypoplasia ISO RGD:732935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 11674581 FZD3 frizzled class receptor 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:732935 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 11674581 FZD3 frizzled class receptor 3 gene DOID:1928 Williams-Beuren syndrome ISO RGD:732935 D RGD:9068941 20200609 RGD maps to 2 Mb in chromosome band 7q11.23 deleted in WS PMID:9147651|REF_RGD_ID:1582654 11674581 FZD3 frizzled class receptor 3 gene DOID:5419 schizophrenia ISO RGD:732935 D RGD:9068941 20200609 RGD IVS3+258T>C polymorphism and/or IVS3+258T−435G haplotype in a Japanese population PMID:14642436|REF_RGD_ID:1582649 11674581 FZD3 frizzled class receptor 3 gene DOID:5419 schizophrenia ISO RGD:732935 D RGD:9068941 20200609 RGD SNPs rs2323019 or rs880481 and/or three-locus haplotype ATG or GCG for SNPs rs2323019-rs352203-rs880481; Chinese Han population PMID:15274031|REF_RGD_ID:1582650 11674581 FZD3 frizzled class receptor 3 gene DOID:5419 schizophrenia no_association ISO RGD:732935 D RGD:9068941 20200609 RGD SNPs rs960914, rs2241802, rs2323019 and rs352203; Japanese population PMID:15657645|REF_RGD_ID:1582651 11674581 FZD3 frizzled class receptor 3 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:732935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 11674581 FZD3 frizzled class receptor 3 gene DOID:9256 colorectal cancer ISO RGD:732935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 11674594 PLCL1 phospholipase C like 1 (inactive) gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:708420 D RGD:9068941 20220707 RGD mRNA:increased expression:liver (rat) PMID:19533683|REF_RGD_ID:2315050 11674594 PLCL1 phospholipase C like 1 (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674604 ARHGEF10L Rho guanine nucleotide exchange factor 10 like gene DOID:0050933 ovarian serous carcinoma susceptibility ISO RGD:1605662 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs10788679(human) PMID:29979793|REF_RGD_ID:14348955 11674604 ARHGEF10L Rho guanine nucleotide exchange factor 10 like gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605662 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 11674604 ARHGEF10L Rho guanine nucleotide exchange factor 10 like gene DOID:3307 teratoma ISO RGD:1605662 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11674604 ARHGEF10L Rho guanine nucleotide exchange factor 10 like gene DOID:6212 ovarian endometrial cancer susceptibility ISO RGD:1605662 D RGD:9068941 20200609 RGD DNA:SNP: :rs2256787(human) PMID:29979793|REF_RGD_ID:14348955 11674604 ARHGEF10L Rho guanine nucleotide exchange factor 10 like gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1605662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 11674676 SYS1 SYS1 golgi trafficking protein gene DOID:2234 focal epilepsy ISO RGD:1602841 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11674676 SYS1 SYS1 golgi trafficking protein gene DOID:2377 multiple sclerosis ISO RGD:1602841 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 11674676 SYS1 SYS1 golgi trafficking protein gene DOID:5810 adenosine deaminase deficiency ISO RGD:1602841 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:26255240|PMID:26376800|PMID:28492532 11674676 SYS1 SYS1 golgi trafficking protein gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1602841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 11674684 TSPAN17 tetraspanin 17 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 11674684 TSPAN17 tetraspanin 17 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1346680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11674684 TSPAN17 tetraspanin 17 gene DOID:14748 Sotos syndrome ISO RGD:1346680 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 11674684 TSPAN17 tetraspanin 17 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1346680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 11674684 TSPAN17 tetraspanin 17 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1346680 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 11674712 MARK1 microtubule affinity regulating kinase 1 gene DOID:0050439 Usher syndrome ISO RGD:732241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 11674712 MARK1 microtubule affinity regulating kinase 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:732241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 11674712 MARK1 microtubule affinity regulating kinase 1 gene DOID:12849 autistic disorder ISO RGD:732241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18492799 11674712 MARK1 microtubule affinity regulating kinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:732241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11674712 MARK1 microtubule affinity regulating kinase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 11674712 MARK1 microtubule affinity regulating kinase 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:732241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 11674712 MARK1 microtubule affinity regulating kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11674743 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:0112338 spermatogenic failure 57 ISO RGD:1348719 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation PMID:25741868 11674743 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:1485 cystic fibrosis ISO RGD:1348719 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:11781704|PMID:15520400|PMID:1695717|PMID:28492532|PMID:7691345|PMID:9725922 11674743 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:4450 renal cell carcinoma ISO RGD:1348719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 11674743 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 11674743 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11674743 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1348719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 11674764 TMEM120B transmembrane protein 120B gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:1626589 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:28492532 11674764 TMEM120B transmembrane protein 120B gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1626589 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Exstrophy-epispadias complex PMID:25741868 11674764 TMEM120B transmembrane protein 120B gene DOID:0111976 immunodeficiency 9 ISO RGD:1626589 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency PMID:16582901|PMID:20004786|PMID:26070885|PMID:28492532 11674779 GPR174 G protein-coupled receptor 174 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11674779 GPR174 G protein-coupled receptor 174 gene DOID:0111823 autosomal hemophilia A ISO RGD:1345699 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 11674779 GPR174 G protein-coupled receptor 174 gene DOID:12134 factor VIII deficiency ISO RGD:1345699 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 11674779 GPR174 G protein-coupled receptor 174 gene DOID:12849 autistic disorder ISO RGD:1345699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11674784 DMAC1 distal membrane arm assembly component 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1319327 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:0050156 idiopathic pulmonary fibrosis exacerbates ISO RGD:1602894 D RGD:9068941 20210910 RGD associated with lung squamous cell carcinoma; DNA:mutations:multiple (human) PMID:33533494|REF_RGD_ID:150429642 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1602894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:0070338 cerebellar hypoplasia ISO RGD:1602894 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:28492532|PMID:29276005|PMID:31474318|PMID:32710489|PMID:36474027 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:0080794 childhood acute megakaryoblastic leukemia ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia without down syndrome PMID:27993330 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:10534 stomach cancer exacerbates ISO RGD:1602894 D RGD:9068941 20210910 RGD mRNA:decreased expression:stomach (human) PMID:29522714|REF_RGD_ID:150429638 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:1059 intellectual disability ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:10908 hydrocephalus ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:31474318 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:1240 leukemia ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24509477 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:12849 autistic disorder ISO RGD:1602894 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:1790 malignant mesothelioma ISO RGD:1602894 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:1790 malignant mesothelioma ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:27834213|REF_RGD_ID:150429641 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1602894 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:2785 Dandy-Walker syndrome ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:31474318 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29376028 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3307 teratoma ISO RGD:1602894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3571 liver cancer ISO RGD:1602894 D RGD:9068941 20210910 RGD protein:decreased expression:liver (human) PMID:26172293|REF_RGD_ID:11530741 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1602894 D RGD:9068941 20210910 RGD human cells and genes in mouse model PMID:33223508|REF_RGD_ID:150429633 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:27687306|REF_RGD_ID:150429649 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1621311 D RGD:9068941 20210910 RGD PMID:28202515|REF_RGD_ID:126848875 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma severity ISO RGD:1602894 D RGD:9068941 20210910 RGD PMID:33707235|REF_RGD_ID:150429648 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:4450 renal cell carcinoma ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691|PMID:23797736 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:SNPs,loss of heterozygosity:multiple (human) PMID:26864202|REF_RGD_ID:150429635 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:26891804|REF_RGD_ID:150429640 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1602894 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20864444|PMID:22495309|PMID:23160955|PMID:24267886|PMID:24728327|PMID:24852293|PMID:24901346|PMID:25574603|PMID:25741868|PMID:26084711|PMID:26467025|PMID:26580448|PMID:27317772|PMID:28424246|PMID:28492532|PMID:28577310|PMID:29276005|PMID:29681085|PMID:30419952|PMID:31474318|PMID:32710489|PMID:33004838|PMID:36474027|PMID:37372360 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:7474 malignant pleural mesothelioma ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:CDS:multiple (human) PMID:26928227|REF_RGD_ID:150429647 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1602894 D RGD:9068941 20211105 RGD PMID:33691361|REF_RGD_ID:150520202 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9000027 Microsatellite Instability ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1602894 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis PMID:25741868|PMID:28492532|PMID:29276005|PMID:31474318|PMID:32710489|PMID:36474027 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1602894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9003745 Enteropathy-Associated T-Cell Lymphoma ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:27600764|REF_RGD_ID:150429643 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9004240 Phyllodes Tumor ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1305576 D RGD:9068941 20241212 RGD mRNA, protein:decreased expression:serum, mammary gland PMID:27766425|REF_RGD_ID:151665131 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9006951 Autosomal Dominant Intellectual Developmental Disorder 70 ISO RGD:1602894 D RGD:7240710 20221221 OMIM 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9006951 Autosomal Dominant Intellectual Developmental Disorder 70 ISO RGD:1602894 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 PMID:25741868|PMID:28492532|PMID:32710489 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1602894 D RGD:7240710 20190315 OMIM 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1602894 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome | ClinVar Annotator: match by term: Luscan-lumish syndrome PMID:17576681|PMID:20864444|PMID:22495309|PMID:23160955|PMID:24267886|PMID:24728327|PMID:24852293|PMID:24901346|PMID:25574603|PMID:25741868|PMID:26084711|PMID:26467025|PMID:26580448|PMID:27317772|PMID:27455002|PMID:27528607|PMID:28166811|PMID:28424246|PMID:28492532|PMID:28577310|PMID:29276005|PMID:29681085|PMID:30419952|PMID:31474318|PMID:32668055|PMID:32710489|PMID:33004838|PMID:36474027|PMID:37025455|PMID:37372360|PMID:9536098 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9008582 Developmental Disease ISO RGD:1602894 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9009131 Ventriculomegaly ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:31474318 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9009270 RABIN-PAPPAS SYNDROME ISO RGD:1602894 D RGD:7240710 20250108 OMIM 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9009270 RABIN-PAPPAS SYNDROME ISO RGD:1602894 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Rabin-Pappas syndrome PMID:25741868|PMID:28492532|PMID:29276005|PMID:31474318|PMID:32710489|PMID:36474027 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9253 gastrointestinal stromal tumor exacerbates ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:26338826|REF_RGD_ID:150429637 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9256 colorectal cancer ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:frameshift mutation:exon 3:c.4219delA (human) PMID:24925220|REF_RGD_ID:150429646 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9256 colorectal cancer ISO RGD:1602894 D RGD:9068941 20210910 RGD mRNA:decreased expression:colon (human) PMID:26069251|REF_RGD_ID:150429645 11674798 SETD2 SET domain containing 2, histone lysine methyltransferase gene DOID:9256 colorectal cancer exacerbates ISO RGD:10166 D RGD:9068941 20210910 RGD PMID:28825595|REF_RGD_ID:150429636 11674832 PARD3B par-3 family cell polarity regulator beta gene DOID:14557 primary pulmonary hypertension ISO RGD:1312545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 11674832 PARD3B par-3 family cell polarity regulator beta gene DOID:5419 schizophrenia ISO RGD:1312545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11674832 PARD3B par-3 family cell polarity regulator beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674860 ARF4 ARF GTPase 4 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1352328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 11674870 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11674870 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1343163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:19439424|PMID:19738637|PMID:24643514|PMID:26337422|PMID:28492532 11674870 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 ISO RGD:1343163 D RGD:7240710 20180130 OMIM 11674870 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 ISO RGD:1343163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 6 PMID:16199547|PMID:17576681|PMID:23297365|PMID:25741868|PMID:26801680|PMID:27388934|PMID:28106320|PMID:28492532|PMID:32504000|PMID:34387338|PMID:9536098 11674870 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1343163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 11674870 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:12849 autistic disorder ISO RGD:1343163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11674870 PDK3 pyruvate dehydrogenase kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674886 MEGF10 multiple EGF like domains 10 gene DOID:0080000 muscular disease ISO RGD:1601732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22101682 11674886 MEGF10 multiple EGF like domains 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11674886 MEGF10 multiple EGF like domains 10 gene DOID:0081345 congenital myopathy 10B ISO RGD:1601732 D RGD:7240710 20230607 OMIM 11674886 MEGF10 multiple EGF like domains 10 gene DOID:0081345 congenital myopathy 10B ISO RGD:1601732 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Congenital myopathy 10b, mild variant PMID:22101682|PMID:22371254|PMID:23954233|PMID:25741868|PMID:27460346|PMID:28492532|PMID:28498977|PMID:29128256|PMID:36349186 11674886 MEGF10 multiple EGF like domains 10 gene DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome ISO RGD:1601732 D RGD:7240710 20180130 OMIM 11674886 MEGF10 multiple EGF like domains 10 gene DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome ISO RGD:1601732 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MEGF10-related myopathy PMID:16199547|PMID:17236770|PMID:17576681|PMID:22101682|PMID:22371254|PMID:23453856|PMID:23954233|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26802438|PMID:28492532|PMID:28498977|PMID:31127727|PMID:31501239|PMID:35370044|PMID:36349186|PMID:9536098 11674886 MEGF10 multiple EGF like domains 10 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1601732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22101682 11674886 MEGF10 multiple EGF like domains 10 gene DOID:630 genetic disease ISO RGD:1601732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11674886 MEGF10 multiple EGF like domains 10 gene DOID:9000123 Deglutition Disorders ISO RGD:1601732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22101682 11674886 MEGF10 multiple EGF like domains 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674886 MEGF10 multiple EGF like domains 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 11674939 ARL13B ARF like GTPase 13B gene DOID:0050777 Joubert syndrome ISO RGD:1349356 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:18674751|PMID:23150559|PMID:23153492|PMID:25741868|PMID:26092869|PMID:27153923|PMID:28492532|PMID:31846650|PMID:34447983 11674939 ARL13B ARF like GTPase 13B gene DOID:0080074 neural tube defect ISO RGD:1557633 D RGD:9068941 20200609 RGD DNA:transversion:intron:IVS2+2T>G (mouse) PMID:17488627|REF_RGD_ID:11553935 11674939 ARL13B ARF like GTPase 13B gene DOID:0110980 Joubert syndrome 1 ISO RGD:1349356 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:18674751|PMID:24033266|PMID:25741868|PMID:28492532 11674939 ARL13B ARF like GTPase 13B gene DOID:0111003 Joubert syndrome 8 ISO RGD:1349356 D RGD:7240710 20180130 OMIM 11674939 ARL13B ARF like GTPase 13B gene DOID:0111003 Joubert syndrome 8 ISO RGD:1349356 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:16199547|PMID:17576681|PMID:18674751|PMID:23150559|PMID:23153492|PMID:24033266|PMID:25138100|PMID:25741868|PMID:26092869|PMID:26132555|PMID:27153923|PMID:28492532|PMID:28787594|PMID:29255182|PMID:34447983|PMID:9536098 11674939 ARL13B ARF like GTPase 13B gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1349356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:16363235|PMID:22627709|PMID:28492532|PMID:9241758 11674939 ARL13B ARF like GTPase 13B gene DOID:2451 protein S deficiency ISO RGD:1349356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:32581362 11674939 ARL13B ARF like GTPase 13B gene DOID:2843 long QT syndrome ISO RGD:1349356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555|PMID:28492532 11674939 ARL13B ARF like GTPase 13B gene DOID:2975 cystic kidney disease ISO RGD:1557633 D RGD:9068941 20200609 RGD PMID:27153923|REF_RGD_ID:11553938 11674939 ARL13B ARF like GTPase 13B gene DOID:630 genetic disease ISO RGD:1349356 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25138100|PMID:25741868|PMID:28492532|PMID:28787594 11674939 ARL13B ARF like GTPase 13B gene DOID:9970 obesity ISO RGD:1557633 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus, cilium (mouse) PMID:22581473|REF_RGD_ID:11553936 11674959 ATG10 autophagy related 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11674959 ATG10 autophagy related 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1351458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 11674993 GCKR glucokinase regulator gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:69130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly PMID:28492532 11674993 GCKR glucokinase regulator gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:69130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 11674993 GCKR glucokinase regulator gene DOID:783 end stage renal disease ISO RGD:69130 D RGD:9068941 20200609 RGD DNA: snp: rs1260326 PMID:21980298|REF_RGD_ID:7242279 11674993 GCKR glucokinase regulator gene DOID:9006599 Hypertriglyceridemia ISO RGD:69130 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia PMID:22182842|PMID:25741868|PMID:28492532 11674993 GCKR glucokinase regulator gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:69130 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes: (rs780094) (human) PMID:27599772|REF_RGD_ID:401794577 11674993 GCKR glucokinase regulator gene DOID:9006646 Metabolic Syndrome ISO RGD:69130 D RGD:9068941 20200609 RGD PMID:19861489|REF_RGD_ID:7242423 11674993 GCKR glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20081858 11674993 GCKR glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20200609 RGD PMID:11473043|PMID:21411509|REF_RGD_ID:2315986|REF_RGD_ID:7242280 11674993 GCKR glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20200609 RGD DNA:SNP::rs1260326(human) PMID:18556336|REF_RGD_ID:2315985 11674993 GCKR glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs780094 (human) PMID:19241058|REF_RGD_ID:2315983 11674993 GCKR glucokinase regulator gene DOID:9970 obesity no_association ISO RGD:69130 D RGD:9068941 20200609 RGD DNA:mutations:CDS:no association with mutations P446L, R590Y, R227X or R518Q in obese French patients despite localization of gene within a QTL for obesity-related phenotypes PMID:12739015|REF_RGD_ID:1626607 11675016 TSHZ3 teashirt zinc finger homeobox 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1314877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27668656 11675016 TSHZ3 teashirt zinc finger homeobox 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1314878 D RGD:9068941 20220825 MouseDO 11675016 TSHZ3 teashirt zinc finger homeobox 3 gene DOID:0080205 CAKUT ISO RGD:1314877 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:39420202 11675016 TSHZ3 teashirt zinc finger homeobox 3 gene DOID:10283 prostate cancer ISO RGD:1314877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 11675016 TSHZ3 teashirt zinc finger homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11675026 FRS2 fibroblast growth factor receptor substrate 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1317842 D RGD:9068941 20200609 RGD PMID:25900027|REF_RGD_ID:11352663 11675046 ADM2 adrenomedullin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 11675046 ADM2 adrenomedullin 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1348112 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 11675046 ADM2 adrenomedullin 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1348112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11675046 ADM2 adrenomedullin 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1348112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 11675046 ADM2 adrenomedullin 2 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1348112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 11675046 ADM2 adrenomedullin 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1348112 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 11675046 ADM2 adrenomedullin 2 gene DOID:1059 intellectual disability ISO RGD:1348112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11675046 ADM2 adrenomedullin 2 gene DOID:178 vascular disease ISO RGD:1348112 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19910445 11675046 ADM2 adrenomedullin 2 gene DOID:864 phlebitis ISO RGD:1348112 D RGD:9068941 20230803 CTD CTD Direct Evidence: therapeutic PMID:34434487 11675046 ADM2 adrenomedullin 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1348112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16987513 11675052 SPRR4 small proline rich protein 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 11675052 SPRR4 small proline rich protein 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 11675052 SPRR4 small proline rich protein 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 11675052 SPRR4 small proline rich protein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 11675052 SPRR4 small proline rich protein 4 gene DOID:5812 MHC class II deficiency ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 11675052 SPRR4 small proline rich protein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 11675058 PATL1 PAT1 homolog 1, processing body mRNA decay factor gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 11675058 PATL1 PAT1 homolog 1, processing body mRNA decay factor gene DOID:1059 intellectual disability ISO RGD:1606423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11675085 MAPK15 mitogen-activated protein kinase 15 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1604966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11675085 MAPK15 mitogen-activated protein kinase 15 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1604966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 11675085 MAPK15 mitogen-activated protein kinase 15 gene DOID:11054 urinary bladder cancer ISO RGD:1604966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 11675085 MAPK15 mitogen-activated protein kinase 15 gene DOID:1612 breast cancer disease_progression ISO RGD:1604966 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:12917323|REF_RGD_ID:2304230 11675085 MAPK15 mitogen-activated protein kinase 15 gene DOID:4621 holoprosencephaly ISO RGD:1604966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 11675085 MAPK15 mitogen-activated protein kinase 15 gene DOID:9002170 Experimental Neoplasms ISO RGD:1604966 D RGD:9068941 20240502 CTD CTD Direct Evidence: therapeutic PMID:36425765 11675085 MAPK15 mitogen-activated protein kinase 15 gene DOID:9003884 Recombinant Chromosome 8 Syndrome ISO RGD:1604966 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1322814 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:0070034 autosomal dominant intellectual developmental disorder 4 ISO RGD:1322814 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 4 PMID:19012874|PMID:25741868 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:1059 intellectual disability ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:5419 schizophrenia ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:9007661 Dwarfism ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 11675117 KIRREL3 kirre like nephrin family adhesion molecule 3 gene DOID:9008582 Developmental Disease ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 11675148 PRKCE protein kinase C epsilon gene DOID:0050700 cardiomyopathy ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15242976 11675148 PRKCE protein kinase C epsilon gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 11675148 PRKCE protein kinase C epsilon gene DOID:10763 hypertension ISO RGD:61925 D RGD:9068941 20200609 RGD PMID:15792354|REF_RGD_ID:1581271 11675148 PRKCE protein kinase C epsilon gene DOID:303 substance-related disorder ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 11675148 PRKCE protein kinase C epsilon gene DOID:3883 Lynch syndrome ISO RGD:736442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 11675148 PRKCE protein kinase C epsilon gene DOID:4248 coronary stenosis ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16782078 11675148 PRKCE protein kinase C epsilon gene DOID:574 peripheral nervous system disease ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20726883 11675148 PRKCE protein kinase C epsilon gene DOID:5844 myocardial infarction ISO RGD:62218 D RGD:9068941 20230202 RGD RNA:decreased expression:myocardium: PMID:28887629|REF_RGD_ID:155882580 11675148 PRKCE protein kinase C epsilon gene DOID:5844 myocardial infarction ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16782078 11675148 PRKCE protein kinase C epsilon gene DOID:9002165 Diabetic Nephropathies ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20665664 11675148 PRKCE protein kinase C epsilon gene DOID:9002211 Hyperalgesia ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11738263|PMID:12582831|PMID:20457222 11675148 PRKCE protein kinase C epsilon gene DOID:9003936 Cardiomegaly ISO RGD:61925 D RGD:9068941 20200609 RGD PMID:15792354|REF_RGD_ID:1581271 11675148 PRKCE protein kinase C epsilon gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12198386 11675148 PRKCE protein kinase C epsilon gene DOID:9007102 Myocardial Ischemia ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 11675148 PRKCE protein kinase C epsilon gene DOID:9007188 Liver Neoplasms ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 11675148 PRKCE protein kinase C epsilon gene DOID:9008443 Colorectal Neoplasms ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7705931 11675148 PRKCE protein kinase C epsilon gene DOID:9352 type 2 diabetes mellitus ISO RGD:61925 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:26398746|REF_RGD_ID:13506804 11675173 TMED1 transmembrane p24 trafficking protein 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1354453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 11675173 TMED1 transmembrane p24 trafficking protein 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1354453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11675173 TMED1 transmembrane p24 trafficking protein 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1354453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 11675173 TMED1 transmembrane p24 trafficking protein 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1354453 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:16250003|PMID:20809525|PMID:21382890|PMID:28492532|PMID:28645073 11675173 TMED1 transmembrane p24 trafficking protein 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1354453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11675187 LOC100976163 polyadenylate-binding protein 1-like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1642212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11675187 LOC100976163 polyadenylate-binding protein 1-like 2 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1642212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048 11675187 LOC100976163 polyadenylate-binding protein 1-like 2 gene DOID:0111823 autosomal hemophilia A ISO RGD:1642212 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 11675187 LOC100976163 polyadenylate-binding protein 1-like 2 gene DOID:12134 factor VIII deficiency ISO RGD:1642212 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 11675187 LOC100976163 polyadenylate-binding protein 1-like 2 gene DOID:12849 autistic disorder ISO RGD:1642212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11675195 MUC4 mucin 4, cell surface associated gene DOID:0050625 biliary tract benign neoplasm ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:bile,biliary tract PMID:18475301|REF_RGD_ID:2324916 11675195 MUC4 mucin 4, cell surface associated gene DOID:0080178 mucositis ISO RGD:621331 D RGD:9068941 20200609 RGD protein:decreased expression:intestine PMID:18998135|REF_RGD_ID:2303603 11675195 MUC4 mucin 4, cell surface associated gene DOID:0080599 Coronavirus infectious disease ISO RGD:735894 D RGD:9068941 20220825 MouseDO 11675195 MUC4 mucin 4, cell surface associated gene DOID:10754 otitis media ISO RGD:621331 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections;mRNA:increased expression:middle ear PMID:11576628|REF_RGD_ID:2303743 11675195 MUC4 mucin 4, cell surface associated gene DOID:10754 otitis media ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA:increased expression:middle ear PMID:14690056|REF_RGD_ID:7349395 11675195 MUC4 mucin 4, cell surface associated gene DOID:11204 allergic conjunctivitis ISO RGD:735894 D RGD:9068941 20200609 RGD PMID:11581187|REF_RGD_ID:7349400 11675195 MUC4 mucin 4, cell surface associated gene DOID:11204 allergic conjunctivitis severity ISO RGD:735893 D RGD:9068941 20200609 RGD PMID:17177679|REF_RGD_ID:7349351 11675195 MUC4 mucin 4, cell surface associated gene DOID:11382 corneal neovascularization ISO RGD:621331 D RGD:9068941 20200609 RGD PMID:17169838|REF_RGD_ID:7349391 11675195 MUC4 mucin 4, cell surface associated gene DOID:12895 keratoconjunctivitis sicca ISO RGD:731951 D RGD:9068941 20200609 RGD PMID:14507865|REF_RGD_ID:7349377 11675195 MUC4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:9068941 20200609 RGD PMID:17595659|REF_RGD_ID:2324922 11675195 MUC4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11751498|REF_RGD_ID:2324891 11675195 MUC4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell PMID:16274046|REF_RGD_ID:2324931 11675195 MUC4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20303649|REF_RGD_ID:2324914 11675195 MUC4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD PMID:17406026|REF_RGD_ID:2324923 11675195 MUC4 mucin 4, cell surface associated gene DOID:3030 mucinous adenocarcinoma severity ISO RGD:735893 D RGD:9068941 20200609 RGD associated with pancreatic disease;protein:increased expression:pancreas PMID:17079945|REF_RGD_ID:2324927 11675195 MUC4 mucin 4, cell surface associated gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:12657964|REF_RGD_ID:2324946 11675195 MUC4 mucin 4, cell surface associated gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:16049287|REF_RGD_ID:2324942 11675195 MUC4 mucin 4, cell surface associated gene DOID:3905 lung carcinoma ISO RGD:735893 D RGD:9068941 20200609 RGD protein:altered expression:lung PMID:11596032|REF_RGD_ID:5131258 11675195 MUC4 mucin 4, cell surface associated gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:trachea PMID:17126950|REF_RGD_ID:5131208 11675195 MUC4 mucin 4, cell surface associated gene DOID:4450 renal cell carcinoma ISO RGD:735893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 11675195 MUC4 mucin 4, cell surface associated gene DOID:4608 common bile duct neoplasm ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:8143972|REF_RGD_ID:2324890 11675195 MUC4 mucin 4, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:621331 D RGD:9068941 20200609 RGD PMID:19082442|REF_RGD_ID:2303602 11675195 MUC4 mucin 4, cell surface associated gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:14752841|REF_RGD_ID:2324944 11675195 MUC4 mucin 4, cell surface associated gene DOID:9000011 Gallbladder Neoplasms ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:gallbladder PMID:18397823|REF_RGD_ID:2324921 11675195 MUC4 mucin 4, cell surface associated gene DOID:9000965 Neoplasm Metastasis ISO RGD:621331 D RGD:9068941 20200609 RGD associated with Melanoma PMID:10918186|REF_RGD_ID:2303746 11675195 MUC4 mucin 4, cell surface associated gene DOID:9002159 Liver Reperfusion Injury ISO RGD:621331 D RGD:9068941 20200609 RGD mRNA:decreased expression:bile duct PMID:21775928|REF_RGD_ID:7364757 11675195 MUC4 mucin 4, cell surface associated gene DOID:9002231 Fetal Growth Retardation ISO RGD:621331 D RGD:9068941 20200609 RGD PMID:19287349|REF_RGD_ID:7349369 11675195 MUC4 mucin 4, cell surface associated gene DOID:9002304 Prostatic Neoplasms ISO RGD:735893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11675195 MUC4 mucin 4, cell surface associated gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:16857800|REF_RGD_ID:2324929 11675195 MUC4 mucin 4, cell surface associated gene DOID:9002992 Nematode Infections ISO RGD:621331 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine PMID:16689826|REF_RGD_ID:2303607 11675195 MUC4 mucin 4, cell surface associated gene DOID:9002992 Nematode Infections ISO RGD:735894 D RGD:9068941 20200609 RGD protein:increased expression:cecum, glycocalyx PMID:21155842|REF_RGD_ID:7364766 11675195 MUC4 mucin 4, cell surface associated gene DOID:9003281 Spontaneous Abortions ISO RGD:735893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 11675195 MUC4 mucin 4, cell surface associated gene DOID:9004283 Transplant Rejection ISO RGD:621331 D RGD:9068941 20200609 RGD PMID:12717211|REF_RGD_ID:7349372 11675201 ESR1 estrogen receptor 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30165855 11675201 ESR1 estrogen receptor 1 gene DOID:0050753 cerebellar ataxia ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 11675201 ESR1 estrogen receptor 1 gene DOID:0060424 chromosome 6q24-q25 deletion syndrome ISO RGD:736559 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome PMID:25741868|PMID:38177409 11675201 ESR1 estrogen receptor 1 gene DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 11675201 ESR1 estrogen receptor 1 gene DOID:0080001 bone disease ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28505433 11675201 ESR1 estrogen receptor 1 gene DOID:0080855 Parkinsonism ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:21420980|REF_RGD_ID:8553241 11675201 ESR1 estrogen receptor 1 gene DOID:0080979 arthrogryposis multiplex congenita-3 ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type PMID:25741868|PMID:27782104 11675201 ESR1 estrogen receptor 1 gene DOID:0110264 cataract 33 ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:12082175|REF_RGD_ID:734947 11675201 ESR1 estrogen receptor 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:736559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:27782104|PMID:28492532 11675201 ESR1 estrogen receptor 1 gene DOID:10247 pleurisy ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:17035596|REF_RGD_ID:4892303 11675201 ESR1 estrogen receptor 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:736559 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:17908481|REF_RGD_ID:2290023 11675201 ESR1 estrogen receptor 1 gene DOID:10283 prostate cancer severity ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17922863|REF_RGD_ID:2290022 11675201 ESR1 estrogen receptor 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat PMID:18006911|REF_RGD_ID:2290020 11675201 ESR1 estrogen receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 11675201 ESR1 estrogen receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:10558867|REF_RGD_ID:1358612 11675201 ESR1 estrogen receptor 1 gene DOID:11054 urinary bladder cancer ISO RGD:736559 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:16712894|PMID:35764155 11675201 ESR1 estrogen receptor 1 gene DOID:11132 prostatic hypertrophy treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:24872436|REF_RGD_ID:10045676 11675201 ESR1 estrogen receptor 1 gene DOID:11383 cryptorchidism ISO RGD:2581 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis PMID:20951417|REF_RGD_ID:8553220 11675201 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:21421090|REF_RGD_ID:10045841 11675201 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:10773580|REF_RGD_ID:10045834 11675201 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:g.938C>T (human) PMID:16530497|REF_RGD_ID:10045825 11675201 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:exon:2014G>A (human) PMID:17953702|REF_RGD_ID:10045839 11675201 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron:397T>C (human) PMID:23137636|REF_RGD_ID:10045665 11675201 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs:intron: (rs2234693, rs9340799) (human) PMID:20116372|REF_RGD_ID:10045826 11675201 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat:intron:IVS5+225(CA)18-25 (human) PMID:17896124|REF_RGD_ID:10045828 11675201 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat:5' utr:g.-1174(TA)10-27 (human) PMID:17953702|REF_RGD_ID:10045839 11675201 ESR1 estrogen receptor 1 gene DOID:11476 osteoporosis treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:16955786|REF_RGD_ID:8694129 11675201 ESR1 estrogen receptor 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 11675201 ESR1 estrogen receptor 1 gene DOID:12306 vitiligo no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:exon PMID:15381239|REF_RGD_ID:8552976 11675201 ESR1 estrogen receptor 1 gene DOID:12306 vitiligo susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:15381239|REF_RGD_ID:8552976 11675201 ESR1 estrogen receptor 1 gene DOID:12336 male infertility ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20833731|PMID:23213263 11675201 ESR1 estrogen receptor 1 gene DOID:1240 leukemia ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18808365 11675201 ESR1 estrogen receptor 1 gene DOID:127 leiomyoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18701604|PMID:31468104 11675201 ESR1 estrogen receptor 1 gene DOID:14228 oligospermia ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20833731 11675201 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer ISO RGD:736559 D RGD:9068941 20250109 RGD DNA:SNP: :908A>G (p.K303R) (human) PMID:17553133|REF_RGD_ID:8553052 11675201 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer disease_progression ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:amplification PMID:19320640|REF_RGD_ID:8552981 11675201 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP: :908A>G (p.K303R) (human) PMID:15034868|REF_RGD_ID:8553053 11675201 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2234693, rs9340799 (human) PMID:20846920|REF_RGD_ID:8552980 11675201 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736559 D RGD:7240710 20250108 OMIM 11675201 ESR1 estrogen receptor 1 gene DOID:1612 breast cancer treatment ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:19011961|REF_RGD_ID:8552979 11675201 ESR1 estrogen receptor 1 gene DOID:1909 melanoma severity ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:19153340|REF_RGD_ID:8553064 11675201 ESR1 estrogen receptor 1 gene DOID:1936 atherosclerosis ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11894143 11675201 ESR1 estrogen receptor 1 gene DOID:1936 atherosclerosis treatment ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:11160157|REF_RGD_ID:8553067 11675201 ESR1 estrogen receptor 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:24548484|PMID:25098259|REF_RGD_ID:10045843|REF_RGD_ID:10045845 11675201 ESR1 estrogen receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:17903303|REF_RGD_ID:4892301 11675201 ESR1 estrogen receptor 1 gene DOID:2394 ovarian cancer ISO RGD:2581 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental;protein:decreased expression:ovary, breast PMID:16891317|REF_RGD_ID:2290042 11675201 ESR1 estrogen receptor 1 gene DOID:2696 Leydig cell tumor ISO RGD:736559 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:17656605|REF_RGD_ID:2290041 11675201 ESR1 estrogen receptor 1 gene DOID:289 endometriosis ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:16500359|REF_RGD_ID:1580337 11675201 ESR1 estrogen receptor 1 gene DOID:2921 glomerulonephritis ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20962747 11675201 ESR1 estrogen receptor 1 gene DOID:299 adenocarcinoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718|PMID:20458558 11675201 ESR1 estrogen receptor 1 gene DOID:305 carcinoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090|PMID:17173897 11675201 ESR1 estrogen receptor 1 gene DOID:3069 malignant astrocytoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24680642 11675201 ESR1 estrogen receptor 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:18285421|REF_RGD_ID:4892300 11675201 ESR1 estrogen receptor 1 gene DOID:3393 coronary artery disease ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20559769|PMID:9396482 11675201 ESR1 estrogen receptor 1 gene DOID:3393 coronary artery disease ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:16159931|REF_RGD_ID:1580335 11675201 ESR1 estrogen receptor 1 gene DOID:3459 breast carcinoma disease_progression ISO RGD:736559 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation PMID:15355923|REF_RGD_ID:8552986 11675201 ESR1 estrogen receptor 1 gene DOID:3459 breast carcinoma severity ISO RGD:736559 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:18234277|REF_RGD_ID:2290017 11675201 ESR1 estrogen receptor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:hypermethylation: :lung PMID:19506903|REF_RGD_ID:4892255 11675201 ESR1 estrogen receptor 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron: PMID:19032828|REF_RGD_ID:8553058 11675201 ESR1 estrogen receptor 1 gene DOID:4448 macular degeneration ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:snps, haplotype:intron:c.454-397T>C, c.454-351A>G (rs2234693, rs9340799) (human) PMID:17325140|REF_RGD_ID:10045664 11675201 ESR1 estrogen receptor 1 gene DOID:5223 infertility ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:24506075|REF_RGD_ID:8552987 11675201 ESR1 estrogen receptor 1 gene DOID:5844 myocardial infarction ISO RGD:736559 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:11894143|PMID:11919305|PMID:14600184|PMID:15133719|PMID:25741868 11675201 ESR1 estrogen receptor 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:736559 D RGD:7240710 20250108 OMIM 11675201 ESR1 estrogen receptor 1 gene DOID:6364 migraine ISO RGD:736559 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Migraine with or without aura, susceptibility to PMID:15133719|PMID:25741868 11675201 ESR1 estrogen receptor 1 gene DOID:6364 migraine susceptibility ISO RGD:736559 D RGD:7240710 20250108 OMIM 11675201 ESR1 estrogen receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:20081107|REF_RGD_ID:4892253 11675201 ESR1 estrogen receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:28284560 11675201 ESR1 estrogen receptor 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:736559 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 11675201 ESR1 estrogen receptor 1 gene DOID:769 neuroblastoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27366082 11675201 ESR1 estrogen receptor 1 gene DOID:8029 sporadic breast cancer ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17932744|REF_RGD_ID:2290043 11675201 ESR1 estrogen receptor 1 gene DOID:8029 sporadic breast cancer no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:17904846|REF_RGD_ID:8552977 11675201 ESR1 estrogen receptor 1 gene DOID:8283 peritonitis treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:23063870|REF_RGD_ID:8553243 11675201 ESR1 estrogen receptor 1 gene DOID:8398 osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs2234693) (human) PMID:20417295|REF_RGD_ID:10045662 11675201 ESR1 estrogen receptor 1 gene DOID:8398 osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs2234693, rs9340799) (human) PMID:19884274|REF_RGD_ID:10045830 11675201 ESR1 estrogen receptor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:22025007|REF_RGD_ID:8553211 11675201 ESR1 estrogen receptor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16220300 11675201 ESR1 estrogen receptor 1 gene DOID:8646 substance-induced psychosis ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19386276 11675201 ESR1 estrogen receptor 1 gene DOID:8719 in situ carcinoma ISO RGD:736559 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17924141|REF_RGD_ID:2290024 11675201 ESR1 estrogen receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:25105782|REF_RGD_ID:10045844 11675201 ESR1 estrogen receptor 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736559 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 11675201 ESR1 estrogen receptor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736559 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:15637090|PMID:17173897|PMID:34606849 11675201 ESR1 estrogen receptor 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2581 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus PMID:23465388|REF_RGD_ID:8553242 11675201 ESR1 estrogen receptor 1 gene DOID:9000555 Vulvar Lichen Sclerosus ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:18076706|REF_RGD_ID:2293866 11675201 ESR1 estrogen receptor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:16522460|REF_RGD_ID:4892312 11675201 ESR1 estrogen receptor 1 gene DOID:9000918 Disease Progression ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20104649 11675201 ESR1 estrogen receptor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736559 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:20104649|PMID:35044086 11675201 ESR1 estrogen receptor 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15324358|REF_RGD_ID:10045837 11675201 ESR1 estrogen receptor 1 gene DOID:9001004 Chronic Periodontitis no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15324358|REF_RGD_ID:10045837 11675201 ESR1 estrogen receptor 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736559 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35044086 11675201 ESR1 estrogen receptor 1 gene DOID:9001708 Hemorrhagic Shock severity ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:20195535|REF_RGD_ID:4892252 11675201 ESR1 estrogen receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10551 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:glomerulus PMID:15550505|REF_RGD_ID:2314023 11675201 ESR1 estrogen receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2581 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney PMID:16464734|REF_RGD_ID:2314020 11675201 ESR1 estrogen receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736559 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:snps:introns: multiple(human) PMID:18305958|REF_RGD_ID:2314005 11675201 ESR1 estrogen receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:19285805|REF_RGD_ID:8553066 11675201 ESR1 estrogen receptor 1 gene DOID:9002239 Estrogen Resistance ISO RGD:736559 D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: ESTROGEN INSENSITIVITY | ClinVar Annotator: match by term: Estrogen resistance syndrome PMID:15133719|PMID:23841731|PMID:25741868|PMID:27754803|PMID:8090165|PMID:8961262 11675201 ESR1 estrogen receptor 1 gene DOID:9002239 Estrogen Resistance susceptibility ISO RGD:736559 D RGD:7240710 20250108 OMIM 11675201 ESR1 estrogen receptor 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18505767 11675201 ESR1 estrogen receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16220300|PMID:17176215 11675201 ESR1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:cds:c.1782G>A (rs2228480) (human) PMID:20128071|REF_RGD_ID:10045835 11675201 ESR1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs:intron: (rs2234693, rs9340799) (human) PMID:24772413|REF_RGD_ID:10045829 11675201 ESR1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:intron, exon PMID:15380041|REF_RGD_ID:10045840 11675201 ESR1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat:promoter:-1174(TA)9-25 (human) PMID:16098017|REF_RGD_ID:10043199 11675201 ESR1 estrogen receptor 1 gene DOID:9002407 Spinal Fractures no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:mutation, SNP:intron, exon: , 274G>C (human) PMID:12183765|REF_RGD_ID:10045833 11675201 ESR1 estrogen receptor 1 gene DOID:9002407 Spinal Fractures susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron:g.-397T>C, g.-351A>G (human) PMID:12915669|REF_RGD_ID:10045836 11675201 ESR1 estrogen receptor 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10551 D RGD:9068941 20200609 RGD associated with Osteoporosis PMID:20112355|REF_RGD_ID:10045851 11675201 ESR1 estrogen receptor 1 gene DOID:9002589 Bone Fractures ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs9340799 (human) PMID:15523071|REF_RGD_ID:10045827 11675201 ESR1 estrogen receptor 1 gene DOID:9002589 Bone Fractures no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP, repeat:promoter:rs2234693 (human) PMID:15523071|REF_RGD_ID:10045827 11675201 ESR1 estrogen receptor 1 gene DOID:9002739 Female Urogenital Diseases ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 11675201 ESR1 estrogen receptor 1 gene DOID:9003566 Mesothelioma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718|PMID:17659810 11675201 ESR1 estrogen receptor 1 gene DOID:9003566 Mesothelioma ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:17659810|REF_RGD_ID:4892302 11675201 ESR1 estrogen receptor 1 gene DOID:9003919 Urination Disorders treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:24259512|REF_RGD_ID:10045674 11675201 ESR1 estrogen receptor 1 gene DOID:9004265 Endometrioid Carcinomas severity ISO RGD:736559 D RGD:9068941 20200609 RGD protein:increased phosphorylation PMID:14559803|REF_RGD_ID:4105451 11675201 ESR1 estrogen receptor 1 gene DOID:9004272 Varicose Ulcer no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphism:(TA) dinucleotide repeat PMID:16153823|REF_RGD_ID:1626508 11675201 ESR1 estrogen receptor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736559 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:26990689|PMID:27366082|PMID:35044086 11675201 ESR1 estrogen receptor 1 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human) PMID:16972020|REF_RGD_ID:10045838 11675201 ESR1 estrogen receptor 1 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS1T>C (human) PMID:16604479|REF_RGD_ID:8158082 11675201 ESR1 estrogen receptor 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20556506 11675201 ESR1 estrogen receptor 1 gene DOID:9005040 Hand Osteoarthritis no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs:exons: (rs2077647, rs1801132) (human) PMID:19884274|REF_RGD_ID:10045830 11675201 ESR1 estrogen receptor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11872642|PMID:17077188 11675201 ESR1 estrogen receptor 1 gene DOID:9005228 Musculoskeletal Pain ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25218601 11675201 ESR1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:11759285|REF_RGD_ID:8553057 11675201 ESR1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2581 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell, nucleus PMID:15637090|REF_RGD_ID:8552983 11675201 ESR1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 11675201 ESR1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms susceptibility ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:18055862|REF_RGD_ID:2290019 11675201 ESR1 estrogen receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2581 D RGD:9068941 20200609 RGD protein:decreased expression:penis PMID:15596216|REF_RGD_ID:2306775 11675201 ESR1 estrogen receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2581 D RGD:9068941 20200609 RGD protein:decreased expression:vagina,nucleus PMID:16734901|REF_RGD_ID:2314014 11675201 ESR1 estrogen receptor 1 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.-397T>C (human) PMID:17419075|REF_RGD_ID:10045661 11675201 ESR1 estrogen receptor 1 gene DOID:9006205 Animal Disease Models ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20962747 11675201 ESR1 estrogen receptor 1 gene DOID:9006421 Feminization ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22275727 11675201 ESR1 estrogen receptor 1 gene DOID:9007181 Osteoporotic Fractures ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:25085540|REF_RGD_ID:10045675 11675201 ESR1 estrogen receptor 1 gene DOID:9007181 Osteoporotic Fractures ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:introns: (rs9397448, rs2234693, rs1643821) (human) PMID:22807154|REF_RGD_ID:10045832 11675201 ESR1 estrogen receptor 1 gene DOID:9007188 Liver Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16712894 11675201 ESR1 estrogen receptor 1 gene DOID:9007456 Female Infertility ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23710174 11675201 ESR1 estrogen receptor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025|PMID:27366082 11675201 ESR1 estrogen receptor 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185510 11675201 ESR1 estrogen receptor 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:18314151|REF_RGD_ID:4892299 11675201 ESR1 estrogen receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:24185510|PMID:24185512|PMID:24398047 11675201 ESR1 estrogen receptor 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736559 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10945602|PMID:15133719|PMID:16280033|PMID:17545528|PMID:17553133|PMID:23236557|PMID:25741868 11675201 ESR1 estrogen receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17097034|REF_RGD_ID:2314012 11675201 ESR1 estrogen receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:snps:introns: rs3020314, rs985694, rs1884051(human) PMID:18854778|REF_RGD_ID:2314003 11675201 ESR1 estrogen receptor 1 gene DOID:9970 obesity ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:11095962|REF_RGD_ID:8553065 11675201 ESR1 estrogen receptor 1 gene DOID:9970 obesity ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:22230815|REF_RGD_ID:8553199 11675201 ESR1 estrogen receptor 1 gene DOID:9970 obesity ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20667977 11675201 Esr1 estrogen receptor 1 (alpha) gene DOID:1612 breast cancer ISO RGD:10551 D RGD:9068941 20250109 MouseDO OMIM:114480 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:0060179 Renpenning syndrome ISO RGD:1604644 D RGD:7240710 20180130 OMIM 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:0060179 Renpenning syndrome ISO RGD:1604644 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PQBP1-related condition | ClinVar Annotator: match by term: Renpenning syndrome PMID:13981686|PMID:14634649|PMID:15024694|PMID:15355434|PMID:15782410|PMID:16199547|PMID:16493439|PMID:16740914|PMID:20410308|PMID:20950397|PMID:21267006|PMID:21315190|PMID:21836667|PMID:24088041|PMID:24781215|PMID:25326635|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26633545|PMID:28492532|PMID:30143497|PMID:31230720|PMID:32041777|PMID:32903913|PMID:33668121|PMID:34470565|PMID:36474027|PMID:36478645|PMID:6711604|PMID:9545405 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1604644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1604644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1604644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:25167861|PMID:25741868|PMID:28492532 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:10907 microcephaly ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14634649|PMID:15024694|PMID:16740914 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1604644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:1882 atrial heart septal defect ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16740914 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14634649 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:630 genetic disease ISO RGD:1604644 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21267006|PMID:24781215|PMID:25741868|PMID:28492532|PMID:30143497|PMID:31230720|PMID:33668121 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:9000557 Thrombocytopenia 1 ISO RGD:1604644 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Thrombocytopenia, X-linked PMID:28492532 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14634649|PMID:15024694 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:9006257 Growth Disorders ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14634649|PMID:16740914 11675226 PQBP1 polyglutamine binding protein 1 gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1604644 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 PMID:28492532 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:0080855 Parkinsonism ISO RGD:1344886 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868|PMID:26467025|PMID:26878173|PMID:26898890|PMID:27878467|PMID:28492532|PMID:31159747|PMID:31353207|PMID:33471991 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:0081384 ataxia-telangiectasia-like disorder-1 ISO RGD:1344886 D RGD:7240710 20180130 OMIM 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:0081384 ataxia-telangiectasia-like disorder-1 ISO RGD:1344886 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 | ClinVar Annotator: match by term: MRE11-related condition PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:15574463|PMID:16199547|PMID:16858402|PMID:17576681|PMID:18652530|PMID:18854157|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:21252998|PMID:21324166|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24033266|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27124789|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28715532|PMID:28849312|PMID:28873162|PMID:28888541|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30306255|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31353207|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32183364|PMID:32283892|PMID:32295625|PMID:32338768|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:32986223|PMID:33098801|PMID:33134171|PMID:33326660|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33510186|PMID:33624863|PMID:33956305|PMID:34009545|PMID:34075539|PMID:34426522|PMID:35089076|PMID:35273153|PMID:35495172|PMID:35534704|PMID:36035419|PMID:36091175|PMID:36113475|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:1059 intellectual disability ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:10652 Alzheimer's disease ISO RGD:1344886 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:15337312|REF_RGD_ID:2317734 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:11054 urinary bladder cancer ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:28492532 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1344886 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.2501A>G rs2155209 (human) PMID:18638378|REF_RGD_ID:2317733 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:12704 ataxia telangiectasia ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:1307 dementia ISO RGD:1344886 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Dementia PMID:25741868|PMID:26467025|PMID:26878173|PMID:26898890|PMID:27878467|PMID:28492532|PMID:31159747|PMID:31353207|PMID:33471991 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:1380 endometrial cancer ISO RGD:1344886 D RGD:9068941 20200609 RGD DNA:deletions:intron:IVS4_delT (human) PMID:15048091|REF_RGD_ID:2317737 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:1596 depressive disorder ISO RGD:1344886 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Mental depression PMID:25741868|PMID:26467025|PMID:26878173|PMID:26898890|PMID:27878467|PMID:28492532|PMID:31159747|PMID:31353207|PMID:33471991 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:1993 rectum cancer susceptibility ISO RGD:1344886 D RGD:9068941 20220303 RGD DNA:SNP:3'utr: (rs2155209) (human) PMID:26735576|REF_RGD_ID:151361212 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:219 colon cancer susceptibility ISO RGD:1344886 D RGD:9068941 20220303 RGD DNA:SNP:3'utr: (rs2155209) (human) PMID:26735576|REF_RGD_ID:151361212 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:2394 ovarian cancer ISO RGD:1344886 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:3069 malignant astrocytoma severity ISO RGD:1344886 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain tumor (human) PMID:17034947|REF_RGD_ID:2317736 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:3459 breast carcinoma ISO RGD:1344886 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:23080121|PMID:23912341|PMID:25741868|PMID:28492532|PMID:32658311 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:3883 Lynch syndrome ISO RGD:1344886 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:3910 lung adenocarcinoma ISO RGD:735478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5426 primary ovarian insufficiency ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:28492532|PMID:30924587 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:543 dystonia ISO RGD:1344886 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:26467025|PMID:26878173|PMID:26898890|PMID:27878467|PMID:28492532|PMID:31159747|PMID:31353207|PMID:33471991 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5517 stomach carcinoma ISO RGD:1344886 D RGD:9068941 20200609 RGD DNA:deletions:intron:IVS4_delT (human) PMID:15319296|REF_RGD_ID:2317738 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:11196167|PMID:23912341|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26898890|PMID:28492532|PMID:32566746|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27621404|PMID:28051113|PMID:28492532|PMID:29922827|PMID:32427313|PMID:32566746|PMID:33134171|PMID:33479248|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27621404|PMID:28051113|PMID:28492532|PMID:29922827|PMID:32427313|PMID:32566746|PMID:33134171|PMID:33479248|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27621404|PMID:28051113|PMID:28492532|PMID:29922827|PMID:32427313|PMID:32566746|PMID:33134171|PMID:33471991|PMID:33479248|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24894818|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27621404|PMID:28051113|PMID:28492532|PMID:29922827|PMID:32039725|PMID:32427313|PMID:32566746|PMID:33134171|PMID:33471991|PMID:33479248|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:17576681|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24763289|PMID:24894818|PMID:25503501|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27153395|PMID:27621404|PMID:28051113|PMID:28492532|PMID:28559769|PMID:29478780|PMID:29922827|PMID:32039725|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32959997|PMID:33134171|PMID:33471991|PMID:33479248|PMID:36091175|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:17576681|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24763289|PMID:24894818|PMID:25503501|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27153395|PMID:27621404|PMID:28051113|PMID:28492532|PMID:28559769|PMID:28873162|PMID:29478780|PMID:29922827|PMID:32039725|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32959997|PMID:33134171|PMID:33471991|PMID:33479248|PMID:36091175|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:11371508|PMID:16199547|PMID:17576681|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24763289|PMID:24894818|PMID:25503501|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27153395|PMID:27621404|PMID:28051113|PMID:28492532|PMID:28559769|PMID:28873162|PMID:29478780|PMID:29922827|PMID:32039725|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32959997|PMID:33134171|PMID:33426167|PMID:33471991|PMID:33479248|PMID:36091175|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:11371508|PMID:16199547|PMID:17576681|PMID:19383352|PMID:20052722|PMID:20805886|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24549055|PMID:24763289|PMID:24894818|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27153395|PMID:27621404|PMID:28051113|PMID:28492532|PMID:28559769|PMID:28873162|PMID:29478780|PMID:29922827|PMID:30613976|PMID:31159747|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32959997|PMID:33134171|PMID:33326660|PMID:33426167|PMID:33471991|PMID:33479248|PMID:34426522|PMID:35534704|PMID:36091175|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344886 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11196167|PMID:11371508|PMID:16199547|PMID:17576681|PMID:19383352|PMID:20052722|PMID:20805886|PMID:21227757|PMID:23080121|PMID:23912341|PMID:24033266|PMID:24093751|PMID:24549055|PMID:24763289|PMID:24894818|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26787654|PMID:26898890|PMID:27153395|PMID:27621404|PMID:28051113|PMID:28492532|PMID:28559769|PMID:28873162|PMID:29348823|PMID:29478780|PMID:29922827|PMID:30613976|PMID:31159747|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32959997|PMID:33134171|PMID:33326660|PMID:33426167|PMID:33471991|PMID:33479248|PMID:34426522|PMID:35534704|PMID:36091175|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:7566 eccrine porocarcinoma ISO RGD:1344886 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Eccrine porocarcinoma 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9001734 Neurocutaneous Syndromes ISO RGD:1344886 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:W210C (human) PMID:15574463|REF_RGD_ID:2317722 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9002304 Prostatic Neoplasms ISO RGD:735478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344886 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Ovarian neoplasm PMID:25741868|PMID:26467025|PMID:28492532|PMID:32283892|PMID:32295625|PMID:33471991 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9002928 Colonic Neoplasms ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:23080121|PMID:23912341|PMID:25452441|PMID:25741868|PMID:26556299|PMID:27329137|PMID:28492532|PMID:31033087 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9004583 Ataxia Telangiectasia Like Disorder ISO RGD:1344886 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:18854157|PMID:19383352|PMID:19732584|PMID:19763152|PMID:20052722|PMID:20307669|PMID:20805886|PMID:21227757|PMID:21252998|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22406018|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24033266|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30306255|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31353207|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32183364|PMID:32283892|PMID:32295625|PMID:32338768|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:32986223|PMID:33098801|PMID:33134171|PMID:33326660|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33510186|PMID:33624863|PMID:33956305|PMID:34009545|PMID:34075539|PMID:34426522|PMID:35089076|PMID:35273153|PMID:35495172|PMID:35534704|PMID:36035419|PMID:36050397|PMID:36091175|PMID:36113475|PMID:37013556|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9006205 Animal Disease Models ISO RGD:735478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Triple-negative breast cancer PMID:26328243 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30441849|PMID:31159747|PMID:31273614|PMID:32566746|PMID:32658311|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28849312|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:31159747|PMID:31273614|PMID:32427313|PMID:32449991|PMID:32566746|PMID:32658311|PMID:33134171|PMID:33479248|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30613976|PMID:31159747|PMID:31273614|PMID:31780696|PMID:32427313|PMID:32449991|PMID:32566746|PMID:32658311|PMID:33134171|PMID:33471991|PMID:33479248|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30613976|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:32427313|PMID:32449991|PMID:32566746|PMID:32658311|PMID:33134171|PMID:33471991|PMID:33479248|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32566746|PMID:32658311|PMID:32832836|PMID:33134171|PMID:33471991|PMID:33479248|PMID:33956305|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:33098801|PMID:33134171|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33956305|PMID:36091175|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:33098801|PMID:33134171|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33510186|PMID:33956305|PMID:35089076|PMID:36091175|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:28888541|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30306255|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32183364|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:33098801|PMID:33134171|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33510186|PMID:33956305|PMID:34075539|PMID:35089076|PMID:36035419|PMID:36091175|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:28888541|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30306255|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31353207|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32183364|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:33098801|PMID:33134171|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33510186|PMID:33956305|PMID:34075539|PMID:34426522|PMID:35089076|PMID:35495172|PMID:36035419|PMID:36091175|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:28888541|PMID:29170652|PMID:29276006|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30306255|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31353207|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32183364|PMID:32338768|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:32986223|PMID:33098801|PMID:33134171|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33510186|PMID:33956305|PMID:34009545|PMID:34075539|PMID:34426522|PMID:35089076|PMID:35273153|PMID:35495172|PMID:36035419|PMID:36050397|PMID:36091175|PMID:36113475|PMID:37013556|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675253 MRE11 MRE11 homolog, double strand break repair nuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344886 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612394|PMID:11196167|PMID:11238951|PMID:11371508|PMID:12966088|PMID:14684699|PMID:14690604|PMID:15269180|PMID:16199547|PMID:16858402|PMID:17576681|PMID:19383352|PMID:19732584|PMID:20052722|PMID:20805886|PMID:21227757|PMID:22006311|PMID:22078559|PMID:22139912|PMID:22705791|PMID:22863007|PMID:23028188|PMID:23080121|PMID:23436002|PMID:23718828|PMID:23755103|PMID:23912341|PMID:24030952|PMID:24093751|PMID:24332946|PMID:2433832|PMID:24549055|PMID:24556621|PMID:24733832|PMID:24763289|PMID:24894818|PMID:25040471|PMID:25133958|PMID:25326635|PMID:25326637|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26057807|PMID:26122175|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26680607|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26878173|PMID:26898890|PMID:27153395|PMID:27329137|PMID:27433846|PMID:27621404|PMID:27783279|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28123851|PMID:28125075|PMID:28152038|PMID:28202063|PMID:28486781|PMID:28492532|PMID:28524162|PMID:28559769|PMID:28699156|PMID:28715532|PMID:28849312|PMID:28873162|PMID:28888541|PMID:29170652|PMID:29348823|PMID:29371908|PMID:29478780|PMID:29752822|PMID:29922827|PMID:30093976|PMID:30306255|PMID:30441849|PMID:30613976|PMID:30924587|PMID:31033087|PMID:31159747|PMID:31273614|PMID:31353207|PMID:31360874|PMID:31780696|PMID:31887429|PMID:32039725|PMID:32183364|PMID:32283892|PMID:32295625|PMID:32338768|PMID:32427313|PMID:32449991|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32959997|PMID:32986223|PMID:33098801|PMID:33134171|PMID:33326660|PMID:33426167|PMID:33471991|PMID:33479248|PMID:33510186|PMID:33956305|PMID:34009545|PMID:34075539|PMID:34426522|PMID:35089076|PMID:35273153|PMID:35495172|PMID:35534704|PMID:36035419|PMID:36050397|PMID:36091175|PMID:36113475|PMID:37013556|PMID:8445618|PMID:8684395|PMID:9536098|PMID:9845372 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1316328 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:17846997|PMID:20131292|PMID:21177858|PMID:21454563|PMID:23592335|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25274781|PMID:25604658|PMID:25741868|PMID:26182405|PMID:27943079|PMID:28492532|PMID:31069529|PMID:31130681|PMID:33707687|PMID:35551623|PMID:36430958 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:0050990 episodic ataxia type 2 ISO RGD:1316328 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:20097664|PMID:21183743|PMID:21454563|PMID:23831250|PMID:25274781|PMID:25735478|PMID:26814174|PMID:27250579|PMID:28007337|PMID:28492532|PMID:31139143 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1316328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:0111254 glutaric acidemia I ISO RGD:1316328 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:21454563|PMID:25274781|PMID:25735478|PMID:27250579|PMID:28492532 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:3413 alpha-mannosidosis ISO RGD:1316328 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:3910 lung adenocarcinoma ISO RGD:1316328 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34254728 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:630 genetic disease ISO RGD:1316328 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24300241|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28600779|PMID:29239743|PMID:31130284|PMID:37626525 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1316328 D RGD:7240710 20180130 OMIM 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1316328 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition PMID:15870678|PMID:16199547|PMID:16845400|PMID:17576681|PMID:17846997|PMID:20131292|PMID:21177858|PMID:21454563|PMID:23592335|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25274781|PMID:25500883|PMID:25604658|PMID:25741868|PMID:26182405|PMID:26467025|PMID:27943079|PMID:28492532|PMID:28600779|PMID:29239743|PMID:31130284|PMID:31130681|PMID:31529068|PMID:9536098 11675277 RNASEH2A ribonuclease H2 subunit A gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1316328 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition PMID:10371528|PMID:10699052|PMID:11854167|PMID:15870678|PMID:16199547|PMID:16602100|PMID:16845400|PMID:17576681|PMID:17846997|PMID:19486177|PMID:20131292|PMID:21177858|PMID:21454563|PMID:23592335|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25274781|PMID:25500883|PMID:25604658|PMID:25735478|PMID:25741868|PMID:26182405|PMID:26467025|PMID:27250579|PMID:27943079|PMID:28492532|PMID:28600779|PMID:28739201|PMID:29239743|PMID:31069529|PMID:31130284|PMID:31130681|PMID:31529068|PMID:33165593|PMID:33707687|PMID:35551623|PMID:36430958|PMID:37626525|PMID:9536098 11675289 EI24 EI24 autophagy associated transmembrane protein gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11675289 EI24 EI24 autophagy associated transmembrane protein gene DOID:0110877 holoprosencephaly 11 ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 11675289 EI24 EI24 autophagy associated transmembrane protein gene DOID:0111723 Jacobsen Syndrome ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 11675289 EI24 EI24 autophagy associated transmembrane protein gene DOID:1059 intellectual disability ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 11675289 EI24 EI24 autophagy associated transmembrane protein gene DOID:5419 schizophrenia ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 11675289 EI24 EI24 autophagy associated transmembrane protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11675289 EI24 EI24 autophagy associated transmembrane protein gene DOID:9007661 Dwarfism ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 11675304 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:0070614 chromosome 11 partial duplication syndrome ISO RGD:730958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 11675304 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:0080000 muscular disease ISO RGD:730958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 11675304 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:1059 intellectual disability ISO RGD:730958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11675304 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:1574 alcohol use disorder susceptibility ISO RGD:730958 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs1176744(human) PMID:20838391|REF_RGD_ID:6480660 11675304 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:1596 depressive disorder susceptibility ISO RGD:730958 D RGD:9068941 20200609 RGD PMID:16487942|REF_RGD_ID:6480662 11675304 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:9000641 Pain ISO RGD:730958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 11675304 HTR3B 5-hydroxytryptamine receptor 3B gene DOID:9005632 Cocaine-Related Disorders susceptibility ISO RGD:730958 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs1176744(human) PMID:20838391|REF_RGD_ID:6480660 11675317 BLTP1 bridge-like lipid transfer protein family member 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 11675317 BLTP1 bridge-like lipid transfer protein family member 1 gene DOID:0111555 Alkuraya-Kucinskas syndrome ISO RGD:1344341 D RGD:7240710 20190315 OMIM 11675317 BLTP1 bridge-like lipid transfer protein family member 1 gene DOID:0111555 Alkuraya-Kucinskas syndrome ISO RGD:1344341 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: Alkuraya-Kucinskas syndrome | ClinVar Annotator: match by term: BLTP1-related condition PMID:25558065|PMID:25741868|PMID:28492532|PMID:29290337 11675317 BLTP1 bridge-like lipid transfer protein family member 1 gene DOID:11836 clubfoot ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868|PMID:29290337|PMID:31680349 11675317 BLTP1 bridge-like lipid transfer protein family member 1 gene DOID:14766 renal agenesis ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:29290337|PMID:31680349 11675317 BLTP1 bridge-like lipid transfer protein family member 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1344341 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25558065|PMID:25741868 11675317 BLTP1 bridge-like lipid transfer protein family member 1 gene DOID:630 genetic disease ISO RGD:1344341 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675317 BLTP1 bridge-like lipid transfer protein family member 1 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1344341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 11675317 BLTP1 bridge-like lipid transfer protein family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 11675412 KCTD19 potassium channel tetramerization domain containing 19 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1349783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 11675412 KCTD19 potassium channel tetramerization domain containing 19 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1349783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 11675412 KCTD19 potassium channel tetramerization domain containing 19 gene DOID:9008870 Chromosome 16q12 Duplication Syndrome ISO RGD:1349783 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome PMID:25741868 11675436 ELOVL1 ELOVL fatty acid elongase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1349015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11675436 ELOVL1 ELOVL fatty acid elongase 1 gene DOID:5723 optic atrophy ISO RGD:1349015 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532 11675436 ELOVL1 ELOVL fatty acid elongase 1 gene DOID:9006712 ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES ISO RGD:1349015 D RGD:7240710 20190918 OMIM 11675436 ELOVL1 ELOVL fatty acid elongase 1 gene DOID:9006712 ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES ISO RGD:1349015 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: ELOVL1-related condition | ClinVar Annotator: match by term: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features PMID:25741868|PMID:28492532|PMID:29496980|PMID:30487246|PMID:35379526 11675461 GPR183 G protein-coupled receptor 183 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1346200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 11675461 GPR183 G protein-coupled receptor 183 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1346200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 11675461 GPR183 G protein-coupled receptor 183 gene DOID:2986 IgA glomerulonephritis ISO RGD:1346200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 11675461 GPR183 G protein-coupled receptor 183 gene DOID:4621 holoprosencephaly ISO RGD:1346200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 11675461 GPR183 G protein-coupled receptor 183 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1346200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 11675467 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ISO RGD:733716 D RGD:7240710 20180130 OMIM 11675467 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ISO RGD:733716 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase | ClinVar Annotator: match by term: HMGCL DEFICIENCY | ClinVar Annotator: match by term: Hydroxymethylglutaric aciduria PMID:10916782|PMID:11129331|PMID:11461194|PMID:12746442|PMID:14518825|PMID:15122894|PMID:15308132|PMID:16199547|PMID:16301867|PMID:16330550|PMID:16601870|PMID:17173698|PMID:17459752|PMID:17576681|PMID:17628222|PMID:17692550|PMID:18080783|PMID:19036343|PMID:19177531|PMID:19932602|PMID:20532825|PMID:23465862|PMID:2443756|PMID:25741868|PMID:25872961|PMID:28220407|PMID:28257639|PMID:28396157|PMID:28488182|PMID:28492532|PMID:28583327|PMID:28747690|PMID:32059735|PMID:33996180|PMID:34573903|PMID:6085636|PMID:7479590|PMID:8617516|PMID:8798725|PMID:8978493|PMID:9163320|PMID:9439591|PMID:9463337|PMID:9536098|PMID:9784232|PMID:9817922 11675467 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:0111458 galactose epimerase deficiency ISO RGD:733716 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency PMID:14518825|PMID:16301867|PMID:16330550|PMID:17692550|PMID:23465862|PMID:25741868|PMID:28492532|PMID:8798725|PMID:9784232|PMID:9817922 11675467 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:1339 Diamond-Blackfan anemia ISO RGD:733716 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:19061985|PMID:19773262|PMID:22689679|PMID:28492532 11675467 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:630 genetic disease ISO RGD:733716 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15308132|PMID:17692550|PMID:19177531|PMID:23465862|PMID:25741868|PMID:25872961|PMID:28257639|PMID:28492532|PMID:28583327|PMID:9163320|PMID:9439591|PMID:9817922 11675467 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:733716 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:10916782|PMID:14518825|PMID:15122894|PMID:15308132|PMID:16199547|PMID:16330550|PMID:17173698|PMID:17692550|PMID:19036343|PMID:19177531|PMID:19932602|PMID:23465862|PMID:25741868|PMID:25872961|PMID:28488182|PMID:28492532|PMID:28583327|PMID:28747690|PMID:8798725|PMID:9439591|PMID:9463337|PMID:9784232|PMID:9817922 11675467 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620554 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:5667251|REF_RGD_ID:2326171 11675467 HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9252 amino acid metabolic disorder ISO RGD:733716 D RGD:9068941 20200609 RGD Hydroxymethylglutaric aciduria/HMG-CoA lyase deficiency DNA:deletion, frameshift_mutation:CDS:2-bp deletion in the serine-69 codon PMID:8440722|REF_RGD_ID:1599500 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048|PMID:25741868 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0111040 glycogen storage disease IXD ISO RGD:733215 D RGD:7240710 20180130 OMIM 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0111040 glycogen storage disease IXD ISO RGD:733215 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: GSD IXd | ClinVar Annotator: match by term: Glycogen storage disease IXd | ClinVar Annotator: match by term: PHKA1-related condition PMID:12825073|PMID:15637709|PMID:16199547|PMID:17576681|PMID:18401027|PMID:22238410|PMID:2252364|PMID:25640679|PMID:25741868|PMID:26242992|PMID:28492532|PMID:28600779|PMID:29667327|PMID:32528171|PMID:7874115|PMID:8145916|PMID:9536098|PMID:9731190 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0111823 autosomal hemophilia A ISO RGD:733215 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:733215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992|PMID:28492532 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:12134 factor VIII deficiency ISO RGD:733215 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:12849 autistic disorder ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:1459 hypothyroidism ISO RGD:621522 D RGD:9068941 20200609 RGD PMID:2774570|REF_RGD_ID:70269 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:2747 glycogen storage disease ISO RGD:733215 D RGD:9068941 20200609 RGD DNA:missense mutation PMID:12825073|REF_RGD_ID:1599893 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:574 peripheral nervous system disease ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:630 genetic disease ISO RGD:733215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:8445 intestinal volvulus ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:870 neuropathy ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621522 D RGD:9068941 20200609 RGD PMID:11692172|REF_RGD_ID:1599897 11675484 PHKA1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 11675533 CENPW centromere protein W gene DOID:0080600 COVID-19 ISO RGD:1350206 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 11675533 CENPW centromere protein W gene DOID:684 hepatocellular carcinoma ISO RGD:1350206 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 11675548 SMIM19 small integral membrane protein 19 gene DOID:0090039 torsion dystonia 6 ISO RGD:1602660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 11675548 SMIM19 small integral membrane protein 19 gene DOID:0111959 immunodeficiency 15B ISO RGD:1602660 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 11675548 SMIM19 small integral membrane protein 19 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1602660 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:25741868|PMID:27726124 11675548 SMIM19 small integral membrane protein 19 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1602660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 11675573 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:0050753 cerebellar ataxia susceptibility ISO RGD:1319593 D RGD:9068941 20200609 RGD PMID:14556008|REF_RGD_ID:1599348 11675573 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:0060694 Cayman type cerebellar ataxia ISO RGD:1319593 D RGD:7240710 20180130 OMIM 11675573 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:0060694 Cayman type cerebellar ataxia ISO RGD:1319593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ATCAY-related condition | ClinVar Annotator: match by term: Cayman type cerebellar ataxia PMID:25741868|PMID:28492532|PMID:29449188 11675573 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:0080690 RASopathy ISO RGD:1319593 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: RASopathy PMID:23379592|PMID:27257017|PMID:27751966|PMID:28492532 11675573 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:13938 amenorrhea ISO RGD:1319593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 11675573 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:543 dystonia ISO RGD:1309312 D RGD:9068941 20200609 RGD DNA:insertion:intron (rat) PMID:16246457|REF_RGD_ID:5133436 11675573 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:543 dystonia ISO RGD:1617620 D RGD:9068941 20200609 RGD DNA:insertions, deletion:intron, exons (mouse) PMID:14556008|REF_RGD_ID:1599348 11675573 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:630 genetic disease ISO RGD:1319593 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 11675573 ATCAY ATCAY kinesin light chain interacting caytaxin gene DOID:9004866 Ataxia ISO RGD:1617620 D RGD:9068941 20200609 RGD DNA:insertions, deletion:intron, exons (mouse) PMID:14556008|REF_RGD_ID:1599348 11675591 FKBPL FKBP prolyl isomerase like gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1353952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11675591 FKBPL FKBP prolyl isomerase like gene DOID:9008939 Breast Neoplasms ISO RGD:1353952 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20103631 11675597 SF3A3 splicing factor 3a subunit 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1318668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 11675597 SF3A3 splicing factor 3a subunit 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1318668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 11675651 SULT4A1 sulfotransferase family 4A member 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:736677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 11675651 SULT4A1 sulfotransferase family 4A member 1 gene DOID:1059 intellectual disability ISO RGD:736677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:0070168 spermatogenic failure 3 susceptibility ISO RGD:1342668 D RGD:9068941 20200609 RGD DNA:snp:intron:g.IVS2+305T>C (rs6103330) (human) PMID:24661730|REF_RGD_ID:11039404 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:12858 Huntington's disease ISO RGD:1342668 D RGD:9068941 20200609 RGD protein:increased expression:striatum (human) PMID:25038828|REF_RGD_ID:11039484 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1342668 D RGD:9068941 20200609 RGD DNA:snp:exon:p.P281P (rs2235611) (human) PMID:21309690|REF_RGD_ID:11039452 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:1324 lung cancer ISO RGD:1342668 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:23132731|REF_RGD_ID:11039482 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:2234 focal epilepsy ISO RGD:1342668 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:234 colon adenocarcinoma ISO RGD:1342668 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon mucosa (human) PMID:9865741|REF_RGD_ID:11039405 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:4159 skin cancer ISO RGD:1342668 D RGD:9068941 20200609 RGD protein:increased expression:skin (human) PMID:24440982|REF_RGD_ID:11039481 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1342668 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1342668 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms;mRNA:increased expression:epithelium of female gonad (human) PMID:23748175|REF_RGD_ID:11039469 11675665 SRSF6 serine and arginine rich splicing factor 6 gene DOID:9006285 Epidermal Hyperplasia ISO RGD:1342668 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:24440982|REF_RGD_ID:11039481 11675688 TMEM235 transmembrane protein 235 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:4892151 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 11675699 FBXL22 F-box and leucine rich repeat protein 22 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1350469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 11675699 FBXL22 F-box and leucine rich repeat protein 22 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 11675699 FBXL22 F-box and leucine rich repeat protein 22 gene DOID:2717 Bloom syndrome ISO RGD:1350469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 11675699 FBXL22 F-box and leucine rich repeat protein 22 gene DOID:9256 colorectal cancer ISO RGD:1350469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 11675705 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:0090112 Nasu-Hakola disease ISO RGD:1351113 D RGD:7240710 20180130 OMIM 11675705 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:0090112 Nasu-Hakola disease ISO RGD:1351113 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | ClinVar Annotator: match by term: TYROBP-related condition PMID:10888890|PMID:11109371|PMID:12370476|PMID:15883308|PMID:17125796|PMID:20500450|PMID:22082900|PMID:25741868|PMID:27658901|PMID:28492532|PMID:28620717|PMID:31996268|PMID:36133075 11675705 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:0110222 Brugada syndrome 5 ISO RGD:1351113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 11675705 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1351113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 11675705 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:409 liver disease ISO RGD:1351113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12651611 11675705 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:630 genetic disease ISO RGD:1351113 D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27658901|PMID:28492532|PMID:28716534|PMID:33527991 11675705 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1303081 D RGD:9068941 20210604 RGD PMID:27049384|REF_RGD_ID:127229930 11675705 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 11675705 TYROBP transmembrane immune signaling adaptor TYROBP gene DOID:9008023 Memory Disorders ISO RGD:1351113 D RGD:8554872 20240402 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098 11675717 DACH2 dachshund family transcription factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 11675717 DACH2 dachshund family transcription factor 2 gene DOID:0111823 autosomal hemophilia A ISO RGD:1354112 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A PMID:31690835 11675717 DACH2 dachshund family transcription factor 2 gene DOID:12134 factor VIII deficiency ISO RGD:1354112 D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital PMID:31690835 11675717 DACH2 dachshund family transcription factor 2 gene DOID:12849 autistic disorder ISO RGD:1354112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 11675739 CRYL1 crystallin lambda 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:735568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11807148|PMID:12917317|PMID:14571368|PMID:14681039|PMID:15994881|PMID:19047647|PMID:22098503|PMID:23303923|PMID:24158611|PMID:28823936|PMID:30311386 11675739 CRYL1 crystallin lambda 1 gene DOID:0110253 cataract 14 multiple types ISO RGD:735568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 11675739 CRYL1 crystallin lambda 1 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:735568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:15994881|PMID:17041943|PMID:18324688|PMID:20236118|PMID:28492532 11675739 CRYL1 crystallin lambda 1 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:11807148|PMID:12172394|PMID:12885339|PMID:14571368|PMID:15638823|PMID:15994881|PMID:17041943|PMID:18324688|PMID:20236118|PMID:27480936|PMID:28492532 11675739 CRYL1 crystallin lambda 1 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:735568 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:11807148|PMID:12172394|PMID:12885339|PMID:14571368|PMID:15638823|PMID:15994881|PMID:17041943|PMID:18324688|PMID:25741868|PMID:27480936|PMID:28492532 11675739 CRYL1 crystallin lambda 1 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:27480936|PMID:28492532 11675739 CRYL1 crystallin lambda 1 gene DOID:14693 Clouston syndrome ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:27480936|PMID:28492532 11675739 CRYL1 crystallin lambda 1 gene DOID:2121 ectodermal dysplasia ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:27480936|PMID:28492532 11675739 CRYL1 crystallin lambda 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 11675739 CRYL1 crystallin lambda 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 11675762 MIDEAS mitotic deacetylase associated SANT domain protein gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1314547 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:21496787|PMID:28492532 11675762 MIDEAS mitotic deacetylase associated SANT domain protein gene DOID:1059 intellectual disability ISO RGD:1314547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 11675792 ARHGAP42 Rho GTPase activating protein 42 gene DOID:1059 intellectual disability ISO RGD:3500508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 11675792 ARHGAP42 Rho GTPase activating protein 42 gene DOID:12704 ataxia telangiectasia ISO RGD:3500508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1319171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1319171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1319171 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:15786477|PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:2843 long QT syndrome ISO RGD:1319171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:3652 Leigh disease ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:630 genetic disease ISO RGD:1319171 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:9005249 Immunodeficiency 103 ISO RGD:1319171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:28492532 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:9007986 NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION ISO RGD:1319171 D RGD:7240710 20231115 OMIM 11675825 SNAPC4 small nuclear RNA activating complex polypeptide 4 gene DOID:9007986 NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION ISO RGD:1319171 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction PMID:25741868|PMID:36965478 11675853 PPIL1 peptidylprolyl isomerase like 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1319281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 11675853 PPIL1 peptidylprolyl isomerase like 1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1319281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia PMID:24033266|PMID:33220177 11675853 PPIL1 peptidylprolyl isomerase like 1 gene DOID:0112325 pontocerebellar hypoplasia type 14 ISO RGD:1319281 D RGD:7240710 20210505 OMIM 11675853 PPIL1 peptidylprolyl isomerase like 1 gene DOID:0112325 pontocerebellar hypoplasia type 14 ISO RGD:1319281 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 14 PMID:24033266|PMID:25741868|PMID:33220177 11675853 PPIL1 peptidylprolyl isomerase like 1 gene DOID:10907 microcephaly ISO RGD:1319282 D RGD:9068941 20220825 MouseDO 11675853 PPIL1 peptidylprolyl isomerase like 1 gene DOID:630 genetic disease ISO RGD:1319281 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 11675853 PPIL1 peptidylprolyl isomerase like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:33220177 11675861 RDH12 retinol dehydrogenase 12 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration PMID:15258582|PMID:16269441|PMID:20006610|PMID:22065924|PMID:24474277|PMID:25741868|PMID:27032803|PMID:28492532|PMID:32014858 11675861 RDH12 retinol dehydrogenase 12 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321376 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:15258582|PMID:16269441|PMID:20006610|PMID:22065924|PMID:23847139|PMID:24474277|PMID:25741868|PMID:27032803|PMID:28157192|PMID:28492532|PMID:29068479|PMID:30029497|PMID:30134391|PMID:31054281|PMID:31456290|PMID:31589614|PMID:31964843|PMID:32014858|PMID:32531858|PMID:32865313|PMID:33090715|PMID:33970760|PMID:34315337|PMID:35775617|PMID:36460718|PMID:36819107|PMID:36909829 11675861 RDH12 retinol dehydrogenase 12 gene DOID:0050817 Stargardt disease ISO RGD:1321376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:25741868 11675861 RDH12 retinol dehydrogenase 12 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1321376 D RGD:7240710 20180130 OMIM 11675861 RDH12 retinol dehydrogenase 12 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1321376 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: RDH12-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 53 PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:21217109|PMID:21232531|PMID:21602930|PMID:22065924|PMID:22995991|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24123792|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25525159|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26868535|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27596865|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29068479|PMID:29178642|PMID:29186038|PMID:30029497|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30870047|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31345219|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31801355|PMID:31814694|PMID:31816670|PMID:31964843|PMID:32014858|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32322264|PMID:32531858|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33921607|PMID:33970760|PMID:34001834|PMID:34315337|PMID:34426522|PMID:34448047|PMID:34567070|PMID:35006499|PMID:35119454|PMID:35672425|PMID:35775617|PMID:35994252|PMID:36011402|PMID:36284670|PMID:36460718|PMID:36690427|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37714431|PMID:38219857|PMID:9536098 11675861 RDH12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:31054281|PMID:32014858 11675861 RDH12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30979730|PMID:31054281|PMID:32014858 11675861 RDH12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047 11675861 RDH12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047 11675861 RDH12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32322264|PMID:32790509|PMID:34001834|PMID:34448047|PMID:35006499|PMID:36460718|PMID:36909829 11675861 RDH12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32322264|PMID:32790509|PMID:34001834|PMID:34448047|PMID:35006499|PMID:36460718|PMID:36909829|PMID:37714431|PMID:38184646 11675861 RDH12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:22995991|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27596865|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31589614|PMID:31814694|PMID:31964843|PMID:32014858|PMID:32036094|PMID:32141364|PMID:32322264|PMID:32531858|PMID:32790509|PMID:32865313|PMID:33921607|PMID:34001834|PMID:34426522|PMID:34448047|PMID:35006499|PMID:36460718|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37714431|PMID:38184646 11675861 RDH12 retinol dehydrogenase 12 gene DOID:1242 globe disease ISO RGD:1321376 D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Globe disease PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532|PMID:30372751 11675861 RDH12 retinol dehydrogenase 12 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321376 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:15258582|PMID:15322982|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17964524|PMID:19011012|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30979730|PMID:31814694|PMID:32014858|PMID:32865313|PMID:34448047 11675861 RDH12 retinol dehydrogenase 12 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:32865313|PMID:34001834|PMID:34448047|PMID:9536098 11675861 RDH12 retinol dehydrogenase 12 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321376 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33970760|PMID:34001834|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35994252|PMID:36690427|PMID:36909829|PMID:9536098 11675861 RDH12 retinol dehydrogenase 12 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321376